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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:
PA1139711324
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
865695
ClinVar RCV Id:
RCV001073162
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Phe694Tyr
CA10590691
NM_007298.3:c.2081T>A