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: PA2830346561

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 369753

ClinVar RCV Id: RCV000415385 RCV000697424 RCV000678129 RCV001531362 RCV003315339

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Arg201His	CA10654826 NM_172108.3:c.602G>A