ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829689068
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54255
ClinVar RCV Id:
RCV000047479
RCV000083170
RCV000478226
RCV000575874
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ile436Thr
CA000970
NM_007297.4:c.1307T>C