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: PA2825098250

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3070957

ClinVar RCV Id: RCV004014459

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000229.1:p.Ala83Thr	CA369865482 NM_000238.4:c.247G>A