ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915992172
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54766
ClinVar RCV Id:
RCV000576961
RCV002514242
RCV002319434
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Thr978Ile
CA002016
NM_007297.4:c.2933C>T