ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915995529
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
531383
ClinVar RCV Id:
RCV000637693
RCV001269131
RCV002386030
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Thr248Ala
CA10600599
NM_007300.4:c.742A>G