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: PA2826275089

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67271

ClinVar RCV Id: RCV000057987 RCV001205698 RCV003162441

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001191727.1:p.Gly254Asp	CA005466 NM_001204798.2:c.761G>A