Canonical Allele Identifier: PA645490887
Gene: NOTCH1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060087.3:p.Gly193Asp
CA10602398
NM_017617.5:c.578G>A