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: PA2830339666

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 941189

ClinVar RCV Id: RCV001210923

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742054.1:p.Phe316_Ile323del	CA1139660306 NM_172057.3:c.946_969del