ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658673122
Gene: NOTCH3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447852
ClinVar RCV Id:
RCV000517091
RCV001171944
RCV002272274
RCV002527502
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000426.2:p.Arg163Trp
CA9263873
NM_000435.3:c.487C>T