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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:
CA2053294177
Gene:
Linked Data
dbSNP Id:
rs1870334824
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.88906071_88906077dup , CM000674.2:g.88906071_88906077dup
GRCh38
NC_000012.11:g.89299848_89299854dup , CM000674.1:g.89299848_89299854dup
GRCh37
NC_000012.10:g.87823979_87823985dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'