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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:
CA919840516
Gene:
Linked Data
dbSNP Id:
rs1567841970
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.40618827dup , CM000679.2:g.40618827dup
GRCh38
NC_000017.10:g.38775079dup , CM000679.1:g.38775079dup
GRCh37
NC_000017.9:g.36028605dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'