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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:
CA2737384064
Gene:
Linked Data
dbSNP Id:
rs2123449020
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.22259267_22259294dup , CM000683.2:g.22259267_22259294dup
GRCh38
NC_000021.8:g.23631587_23631614dup , CM000683.1:g.23631587_23631614dup
GRCh37
NC_000021.7:g.22553458_22553485dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001754978.1:n.221+46454_221+46481dup
Search 100 bp 5'
Search 100 bp 3'