Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA329106

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67332

ClinVar RCV Id: RCV000058051 RCV001854202

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742053.1:p.Lys638Glu	CA005976 NM_172056.2:c.1912A>G