Allele Registry

Canonical Allele Identifier: PA215048

Gene: KCNH1 HGNC NCBI

ClinVar RCV:

RCV000149911

ClinVar Variation:

162521

HGVS (amino-acid)	Matching Registered Transcripts
NP_758872.1:p.Leu516Phe	CA215047 NM_172362.3:c.1546C>T