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: PA329203

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67353

ClinVar RCV Id: RCV000058073

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000229.1:p.Ile662Thr	CA006146 NM_000238.4:c.1985T>C