ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658707575
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
489716
ClinVar RCV Id:
RCV000579732
RCV003645053
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ser1178Thr
CA10594903
NM_007294.4:c.3533G>C