ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829693970
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000467857
RCV000510024
RCV000588993
RCV002222516
ClinVar Variation:
409318
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Asp1296Val
CA059047
NM_007297.4:c.3887A>T