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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:
CA1691656498
Gene:
Linked Data
dbSNP Id:
rs1803287339
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.17957958_17957959del , CM000669.2:g.17957958_17957959del
GRCh38
NC_000007.13:g.17997581_17997582del , CM000669.1:g.17997581_17997582del
GRCh37
NC_000007.12:g.17964106_17964107del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_927078.1:n.271-712_271-711del
Search 100 bp 5'
Search 100 bp 3'