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: PA2830346492

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1398081

ClinVar RCV Id: RCV001912750

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Gly156Ser	CA409655272 NM_172108.3:c.466G>A