ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139729447
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
843219
ClinVar RCV Id:
RCV001045787
RCV003158333
RCV003238285
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ile460Thr
CA10599284
NM_007300.4:c.1379T>C