ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829688282
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54120
ClinVar RCV Id:
RCV000047332
RCV000111542
RCV000216374
RCV000779861
RCV001357142
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser314Pro
CA000723
NM_007297.4:c.940T>C