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: PA2830339670

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1420725

ClinVar RCV Id: RCV001923569

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742054.1:p.Phe316Leu	CA369857741 NM_172057.3:c.948C>G CA369857742 NM_172057.3:c.948C>A CA369857746 NM_172057.3:c.946T>C