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: PA2826275233

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67336

ClinVar RCV Id: RCV000058055 RCV000234804

ClinVar Variation Id: 200751

ClinVar RCV Id: RCV000182036 RCV000678951

ClinVar Variation Id: 423753

ClinVar RCV Id: RCV000487077

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Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001191727.1:p.Phe300Leu