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: PA658667579

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 456912

ClinVar RCV Id: RCV000526037

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742053.1:p.Ala85Thr	CA369865453 NM_172056.2:c.253G>A