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: PA2825098602

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 923222

ClinVar RCV Id: RCV001298458 RCV001843181 RCV002375079 RCV002224005

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000229.1:p.Met308Arg	CA040915 NM_000238.4:c.923T>G