ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915998012
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496358
ClinVar RCV Id:
RCV000586074
RCV001525222
RCV002532354
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Gly828Val
CA10597035
NM_007300.4:c.2483G>T