Allele Registry

Canonical Allele Identifier: PA123952

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar RCV:

RCV000015514

RCV000058108

RCV000208497

RCV001262685

RCV001841245

RCV001851875

RCV002223758

RCV003162252

RCV004549372

ClinVar Variation:

14433

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742053.1:p.Arg784Trp	CA006462 NM_172056.2:c.2350C>T