ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915997868
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496355
ClinVar RCV Id:
RCV000589991
RCV001369507
RCV003157728
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Thr796Arg
CA10597232
NM_007300.4:c.2387C>G