ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915996502
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229946
ClinVar RCV Id:
RCV000213319
RCV002518249
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Pro490Leu
CA10580665
NM_007300.4:c.1469C>T