ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499276198
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001295047
RCV003158659
ClinVar Variation:
999096
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.His399Tyr
CA10599661
NM_007300.4:c.1195C>T