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: PA328473

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67183

ClinVar RCV Id: RCV000057890 RCV000481749 RCV001854190 RCV002381372

ClinVar Variation Id: 519399

ClinVar RCV Id: RCV000618256 RCV000631556

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742054.1:p.Phe91Leu	CA004434 NM_172057.3:c.273C>A CA369860049 NM_172057.3:c.273C>G CA369860054 NM_172057.3:c.271T>C