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: PA328840

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67272

ClinVar RCV Id: RCV000057988 RCV001854198

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742053.1:p.Lys595Glu	CA005473 NM_172056.2:c.1783A>G