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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:
CA68743025
Gene:
Linked Data
dbSNP Id:
rs1016355977
gnomAD v3:
3-3190064-CCA-C
gnomAD v4:
3-3190064-CCA-C
MyVariant Identifiers:
chr3:g.3231749_3231750del (hg19)
chr3:g.3190065_3190066del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.3190065_3190066del , CM000665.2:g.3190065_3190066del
GRCh38
NC_000003.11:g.3231749_3231750del , CM000665.1:g.3231749_3231750del
GRCh37
NC_000003.10:g.3206749_3206750del
NCBI36
Search 100 bp 5'
Search 100 bp 3'