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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:
CA184882134
Gene:
Linked Data
dbSNP Id:
rs764398381
gnomAD v2:
8-117641636-ATTAT-A
gnomAD v3:
8-116629397-ATTAT-A
gnomAD v4:
8-116629397-ATTAT-A
MyVariant Identifiers:
chr8:g.117641637_117641640del (hg19)
chr8:g.116629398_116629401del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.116629400_116629403del , CM000670.2:g.116629400_116629403del
GRCh38
NC_000008.10:g.117641639_117641642del , CM000670.1:g.117641639_117641642del
GRCh37
NC_000008.9:g.117710820_117710823del
NCBI36
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