ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658820275
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
531225
ClinVar RCV Id:
RCV000637367
RCV003157749
RCV004003840
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Leu1080Val
CA10595506
NM_007294.4:c.3238T>G