ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA198432
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187732
ClinVar RCV Id:
RCV000167486
RCV000505886
RCV001202434
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Met1083Thr
CA002100
NM_007294.4:c.3248T>C