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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
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Canonical Allele Identifier:
CA449605703
Gene: LINC02571
HGNC
NCBI
Linked Data
dbSNP Id:
rs1554193169
gnomAD v2:
6-31274518-T-TCGGGGAGTCCAGCAGGTCC
gnomAD v3:
6-31306741-T-TCGGGGAGTCCAGCAGGTCC
gnomAD v4:
6-31306741-T-TCGGGGAGTCCAGCAGGTCC
MyVariant Identifiers:
chr6:g.31274518_31274519insCGGGGAGTCCAGCAGGTCC (hg19)
chr6:g.31306741_31306742insCGGGGAGTCCAGCAGGTCC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31306742_31306743insGGGGAGTCCAGCAGGTCCC , CM000668.2:g.31306742_31306743insGGGGAGTCCAGCAGGTCCC
GRCh38
NC_000006.11:g.31274519_31274520insGGGGAGTCCAGCAGGTCCC , CM000668.1:g.31274519_31274520insGGGGAGTCCAGCAGGTCCC
GRCh37
NC_000006.10:g.31382498_31382499insGGGGAGTCCAGCAGGTCCC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_926691.1:n.949+36_949+37insGGACCTGCTGGACTCCCCG
XR_926691.2:n.965+36_965+37insGGACCTGCTGGACTCCCCG
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