ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915996056
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000111554
RCV000575806
RCV001358702
RCV002514227
ClinVar Variation:
54136
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Thr374Ile
CA000750
NM_007300.4:c.1121C>T