ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000342
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
37555
ClinVar RCV Id:
RCV000031136
RCV000222822
RCV000688186
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ala1293Pro
CA002499
NM_007300.4:c.3877G>C