ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829698050
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000164491
RCV001077314
RCV001355404
RCV002515141
ClinVar Variation:
185124
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Thr1752Ile
CA003548
NM_007297.4:c.5255C>T