Canonical Allele Identifier: PA1139691183
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 892108
ClinVar RCV Id: RCV001127906

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000426.2:p.Ser550Phe
CA404526015
NM_000435.3:c.1649C>T