Canonical Allele Identifier: PA257227
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 14423
ClinVar RCV Id: RCV000015504 RCV000057986 RCV001545123 RCV001851874
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742054.1:p.Ile253Arg
CA005460
NM_172057.3:c.758T>G