ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829690947
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54512
ClinVar RCV Id:
RCV000047772
RCV000111807
RCV000510045
RCV001284287
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Asp702Tyr
CA001504
NM_007297.4:c.2104G>T