ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915997484
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
96904
ClinVar RCV Id:
RCV000083025
RCV000164402
RCV001245413
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser694Asn
CA001381
NM_007300.4:c.2081G>A