ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915996287
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187435
ClinVar RCV Id:
RCV000167163
RCV000637559
RCV001800506
RCV003995567
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ile429Thr
CA000840
NM_007300.4:c.1286T>C