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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:
CA905231292
Gene:
Linked Data
dbSNP Id:
rs1252239221
gnomAD v3:
3-21207180-AG-A
gnomAD v4:
3-21207180-AG-A
MyVariant Identifiers:
chr3:g.21248673del (hg19)
chr3:g.21207181del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.21207181del , CM000665.2:g.21207181del
GRCh38
NC_000003.11:g.21248673del , CM000665.1:g.21248673del
GRCh37
NC_000003.10:g.21223677del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_940646.1:n.254-3817del
XR_940646.2:n.547-3817del
Search 100 bp 5'
Search 100 bp 3'