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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:
CA2699556505
Gene:
Linked Data
dbSNP Id:
rs2104227707
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.62234032_62234033dup , CM000664.2:g.62234032_62234033dup
GRCh38
NC_000002.11:g.62461167_62461168dup , CM000664.1:g.62461167_62461168dup
GRCh37
NC_000002.10:g.62314671_62314672dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'