ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915997433
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409357
ClinVar RCV Id:
RCV000509924
RCV000469824
RCV000481276
RCV004000805
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Lys683Arg
CA10597908
NM_007300.4:c.2048A>G