Canonical Allele Identifier: PA123950
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 14433
ClinVar RCV Id: RCV000015514 RCV000058108 RCV000208497 RCV001262685 RCV001841245 RCV001851875 RCV002223758 RCV003162252 RCV004549372
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742054.1:p.Arg444Trp
CA006462
NM_172057.3:c.1330C>T