ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000502
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
462627
ClinVar RCV Id:
RCV000525249
RCV001021587
RCV003999074
RCV003478150
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser1330Cys
CA10593986
NM_007300.4:c.3988A>T