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: PA144994

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67493

ClinVar RCV Id: RCV000058222 RCV002223783 RCV002514289

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742054.1:p.Arg795His	CA008277 NM_172057.3:c.2384G>A