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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:
CA566338534
Gene: LINC02571
HGNC
NCBI
Linked Data
dbSNP Id:
rs1554193179
gnomAD v2:
6-31274518-T-TCCAGGAGTCCAGCAGGTCC
gnomAD v3:
6-31306741-T-TCCAGGAGTCCAGCAGGTCC
gnomAD v4:
6-31306741-T-TCCAGGAGTCCAGCAGGTCC
MyVariant Identifiers:
chr6:g.31274518_31274519insCCAGGAGTCCAGCAGGTCC (hg19)
chr6:g.31306741_31306742insCCAGGAGTCCAGCAGGTCC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31306743_31306744insAGGAGTCCAGCAGGTCCCC , CM000668.2:g.31306743_31306744insAGGAGTCCAGCAGGTCCCC
GRCh38
NC_000006.11:g.31274520_31274521insAGGAGTCCAGCAGGTCCCC , CM000668.1:g.31274520_31274521insAGGAGTCCAGCAGGTCCCC
GRCh37
NC_000006.10:g.31382499_31382500insAGGAGTCCAGCAGGTCCCC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_926691.1:n.949+36_949+37insGGACCTGCTGGACTCCTGG
XR_926691.2:n.965+36_965+37insGGACCTGCTGGACTCCTGG
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