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: PA329558

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67521

ClinVar RCV Id: RCV000058250 RCV001854210 RCV002477191

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742053.1:p.Arg242Gly	CA008718 NM_172056.2:c.724C>G