ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000429
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
440470
ClinVar RCV Id:
RCV000707493
RCV000759530
RCV001524538
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Gln1313Arg
CA059105
NM_007300.4:c.3938A>G