ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658673118
Gene: NOTCH3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447851
ClinVar RCV Id:
RCV000518641
RCV002527501
RCV001253585
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000426.2:p.Asp158Asn
CA9263877
NM_000435.3:c.472G>A