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: PA2826275416

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67382

ClinVar RCV Id: RCV000058103

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001191727.1:p.Lys417Asn	CA006419 NM_001204798.2:c.1251G>C CA369856355 NM_001204798.2:c.1251G>T