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: PA093193

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 14424

ClinVar RCV Id: RCV000015505 RCV000254122 RCV000806677 RCV000058125 RCV000509399 RCV001544763

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000229.1:p.Val822Met	CA006796 NM_000238.4:c.2464G>A