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: PA305010

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67402

ClinVar RCV Id: RCV000058126 RCV000234770 RCV000618449 RCV000786142

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742054.1:p.Arg483Trp	CA006812 NM_172057.3:c.1447C>T