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: PA328809

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67266

ClinVar RCV Id: RCV000057979 RCV002280098 RCV001854197

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742054.1:p.Asn248Asp	CA005415 NM_172057.3:c.742A>G