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: PA2826275250

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67343

ClinVar RCV Id: RCV000058062 RCV000431767

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001191727.1:p.Met305Ile	CA006057 NM_001204798.2:c.915G>A CA369857817 NM_001204798.2:c.915G>T CA369857818 NM_001204798.2:c.915G>C