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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:
CA1392628908
Gene:
Linked Data
dbSNP Id:
rs1708402751
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.109743660dup , CM000665.2:g.109743660dup
GRCh38
NC_000003.11:g.109462507dup , CM000665.1:g.109462507dup
GRCh37
NC_000003.10:g.110945197dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_924325.1:n.142+63465dup
Search 100 bp 5'
Search 100 bp 3'