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: PA1139673120

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 924749

ClinVar RCV Id: RCV001843282

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000229.1:p.Gly879Ser	CA369853790 NM_000238.4:c.2635G>A