ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829689489
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_009228.2:p.Thr492Lys
CA001074
NM_007297.4:c.1475C>A