Canonical Allele Identifier: PA305146
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67471
ClinVar RCV Id: RCV000058199 RCV000181911 RCV001088304 RCV000987996 RCV001804794 RCV001841744 RCV004019015 RCV004549486
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000229.1:p.Val1038Met
CA007991
NM_000238.4:c.3112G>A