ClinGen Allele Registry
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Canonical Allele Identifier:
PA915992052
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000165586
RCV000506213
RCV000637571
RCV003995435
ClinVar Variation:
186062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Asn955Asp
CA001957
NM_007297.4:c.2863A>G