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: PA092359

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67402

ClinVar RCV Id: RCV000058126 RCV000234770 RCV000618449 RCV000786142

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000229.1:p.Arg823Trp	CA006812 NM_000238.4:c.2467C>T