ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829691159
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000589991
RCV001369507
RCV003157728
ClinVar Variation:
496355
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Thr749Arg
CA10597232
NM_007297.4:c.2246C>G