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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:
CA615972742
Gene:
Linked Data
dbSNP Id:
rs1452103908
gnomAD v2:
14-92780977-TAAC-T
gnomAD v3:
14-92314633-TAAC-T
gnomAD v4:
14-92314633-TAAC-T
MyVariant Identifiers:
chr14:g.92780978_92780980del (hg19)
chr14:g.92314634_92314636del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.92314636_92314638del , CM000676.2:g.92314636_92314638del
GRCh38
NC_000014.8:g.92780980_92780982del , CM000676.1:g.92780980_92780982del
GRCh37
NC_000014.7:g.91850733_91850735del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_944153.1:n.132-610_132-608del
Search 100 bp 5'
Search 100 bp 3'