ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829694290
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55137
ClinVar RCV Id:
RCV000112293
RCV001340332
RCV003162413
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Met1353Val
CA002703
NM_007297.4:c.4057A>G