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: PA2830346807

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 369768

ClinVar RCV Id: RCV000466204 RCV000519184 RCV000678146

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Gly290Ser	CA10654811 NM_172108.3:c.868G>A