Canonical Allele Identifier: PA658816133
Gene: NOTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 544189

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060087.3:p.Ser417Leu
CA5341876
NM_017617.5:c.1250C>T