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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:
CA646980604
Gene:
Linked Data
COSMIC:
COSN17644264
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.81347539T>G , CM000664.2:g.81347539T>G
GRCh38
NC_000002.11:g.81574663T>G , CM000664.1:g.81574663T>G
GRCh37
NC_000002.10:g.81428174T>G
NCBI36
Search 100 bp 5'
Search 100 bp 3'