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: PA916061111

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2726305

ClinVar RCV Id: RCV003531407

ClinVar Variation Id: 3073003

ClinVar RCV Id: RCV004015017

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742053.1:p.His309Gln	CA040940 NM_172056.2:c.927C>A CA369861927 NM_172056.2:c.927C>G