ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829689393
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54297
ClinVar RCV Id:
RCV000047529
RCV000111648
RCV000167144
RCV000587950
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ala477Val
CA001052
NM_007297.4:c.1430C>T