Canonical Allele Identifier: PA1139746413
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 925167
ClinVar RCV Id: RCV001840976

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742054.1:p.Asp43Glu
CA369860335
NM_172057.3:c.129C>G
CA369860336
NM_172057.3:c.129C>A