ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829705430
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55147
ClinVar RCV Id:
RCV000112302
RCV001294633
RCV001022101
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Met1411Thr
CA002723
NM_007300.4:c.4232T>C