ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829705475
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246517
ClinVar RCV Id:
RCV000237031
RCV000509656
RCV000781025
RCV001042895
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Leu1418Ser
CA10584555
NM_007300.4:c.4253T>C