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: PA2573099816

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1332223

ClinVar RCV Id: RCV001842189

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742053.1:p.Pro310Leu	CA040960 NM_172056.2:c.929C>T