ClinGen Allele Registry
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Canonical Allele Identifier:
PA915997185
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000047624
RCV000111724
RCV000221118
RCV001588879
RCV004525866
RCV004554652
ClinVar Variation:
54385
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser632Asn
CA001235
NM_007300.4:c.1895G>A