ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915995742
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000214980
RCV000555637
RCV001192475
ClinVar Variation:
229918
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Cys305Tyr
CA10580687
NM_007300.4:c.914G>A