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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:
CA1212407225
Gene:
Linked Data
dbSNP Id:
rs1660724156
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.184680315_184680316dup , CM000663.2:g.184680315_184680316dup
GRCh38
NC_000001.10:g.184649449_184649450dup , CM000663.1:g.184649449_184649450dup
GRCh37
NC_000001.9:g.182916072_182916073dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'