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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:
CA1004589660
Gene:
Linked Data
dbSNP Id:
rs1652357967
gnomAD v3:
1-94564037-TCAC-T
gnomAD v4:
1-94564037-TCAC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.94564039_94564041del , CM000663.2:g.94564039_94564041del
GRCh38
NC_000001.10:g.95029595_95029597del , CM000663.1:g.95029595_95029597del
GRCh37
NC_000001.9:g.94802183_94802185del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001738161.1:n.461+426_461+428del
Search 100 bp 5'
Search 100 bp 3'