ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658666419
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000552520
RCV000663173
RCV000777227
ClinVar Variation:
462580
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Pro747Ser
CA10597520
NM_007294.4:c.2239C>T