ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915996479
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000047479
RCV000083170
RCV000478226
RCV000575874
ClinVar Variation:
54255
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ile483Thr
CA000970
NM_007300.4:c.1448T>C