ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000516
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
431258
ClinVar RCV Id:
RCV000583038
RCV000496832
RCV000530741
RCV003493604
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Val1333Ala
CA10593965
NM_007300.4:c.3998T>C