Canonical Allele Identifier: PA108070
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 447794
ClinVar RCV Id: RCV000517370 RCV001526580 RCV004537851 RCV000763037 RCV002252148
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000426.2:p.Arg558Cys
CA9263584
NM_000435.3:c.1672C>T