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: PA2830336761

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3070957

ClinVar RCV Id: RCV004014459

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742053.1:p.Ala83Thr	CA369865482 NM_172056.2:c.247G>A