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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
Allele Registry
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Canonical Allele Identifier:
CA566338526
Gene: LINC02571
HGNC
NCBI
Linked Data
dbSNP Id:
rs1350325951
gnomAD v2:
6-31274378-C-CT
gnomAD v3:
6-31306601-C-CT
gnomAD v4:
6-31306601-C-CT
MyVariant Identifiers:
chr6:g.31274378_31274379insT (hg19)
chr6:g.31306601_31306602insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31306601_31306602insT , CM000668.2:g.31306601_31306602insT
GRCh38
NC_000006.11:g.31274378_31274379insT , CM000668.1:g.31274378_31274379insT
GRCh37
NC_000006.10:g.31382357_31382358insT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_926691.1:n.949+176_949+177insA
XR_926691.2:n.965+176_965+177insA
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