ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580366145
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2007392
ClinVar RCV Id:
RCV002842285
RCV003157271
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser819Tyr
CA10597095
NM_007300.4:c.2456C>A