Canonical Allele Identifier: PA328460
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67180
ClinVar RCV Id: RCV000057887 RCV001588889 RCV001854189 RCV003993785
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742053.1:p.Ser428Leu
CA004407
NM_172056.2:c.1283C>T