ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829707931
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
375448
ClinVar RCV Id:
RCV000416530
RCV001076928
RCV003168611
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Lys1688Arg
CA10591520
NM_007300.4:c.5063A>G