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: PA1139764551

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 925941

ClinVar RCV Id: RCV001841029

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742053.1:p.Pro310Thr	CA369861926 NM_172056.2:c.928C>A