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: PA2825099370

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1059933

ClinVar RCV Id: RCV001369297

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000229.1:p.Arg1033Leu	CA369852660 NM_000238.4:c.3098G>T