ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829707482
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000519293
RCV001078046
RCV001367052
RCV002345345
ClinVar Variation:
55399
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Thr596Ala
CA003238
NM_007298.3:c.1786A>G