ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645443569
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000159953
RCV000685499
RCV002399585
RCV003453262
ClinVar Variation:
182132
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Thr539Lys
CA001074
NM_007300.4:c.1616C>A