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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:
CA2366180219
Gene:
Linked Data
dbSNP Id:
rs1988121804
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.45352074_45352077dup , CM000682.2:g.45352074_45352077dup
GRCh38
NC_000020.10:g.43980714_43980717dup , CM000682.1:g.43980714_43980717dup
GRCh37
NC_000020.9:g.43414128_43414131dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'