ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915996222
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000480438
RCV001318285
RCV002395173
ClinVar Variation:
422833
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Val415Ala
CA10599563
NM_007300.4:c.1244T>C