Canonical Allele Identifier: PA346559
Gene: NOTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 180459

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060087.3:p.Ser1657Arg
CA346558
NM_017617.5:c.4971C>G
CA375644179
NM_017617.5:c.4971C>A
CA375644191
NM_017617.5:c.4969A>C