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: PA329181

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67348

ClinVar RCV Id: RCV000058068 RCV000205745 RCV003162442

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742054.1:p.Gly317Ser	CA006114 NM_172057.3:c.949G>A