ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915997407
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000529874
RCV003157691
ClinVar Variation:
462574
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ala678Val
CA10597942
NM_007300.4:c.2033C>T