ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000339
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55035
ClinVar RCV Id:
RCV000048365
RCV000112207
RCV003157379
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ala1293Asp
CA002500
NM_007300.4:c.3878C>A