Canonical Allele Identifier: PA2580114138
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1722300
ClinVar RCV Id: RCV002302418

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000426.2:p.Phe566Leu
CA404525196
NM_000435.3:c.1698C>G
CA404525198
NM_000435.3:c.1698C>A
CA404525832
NM_000435.3:c.1696T>C