ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915965971
Gene: NOTCH3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
812745
ClinVar RCV Id:
RCV001003547
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000426.2:p.Cys212Arg
CA404533223
NM_000435.3:c.634T>C