ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915995771
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000195725
RCV001019329
ClinVar Variation:
216676
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ala314Val
CA335896
NM_007300.4:c.941C>T