ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658666530
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
462585
ClinVar RCV Id:
RCV000536745
RCV000985387
RCV003157696
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ala806Val
CA10597172
NM_007294.4:c.2417C>T