ClinGen Allele Registry
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Canonical Allele Identifier:
PA915996253
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54178
ClinVar RCV Id:
RCV000047396
RCV000111575
RCV000222994
RCV001284387
RCV002509191
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Asp420Tyr
CA000830
NM_007300.4:c.1258G>T