Canonical Allele Identifier: PA1139691022
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 976176
ClinVar RCV Id: RCV001253387

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000426.2:p.Cys251Phe
CA404532525
NM_000435.3:c.752G>T