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: PA2830344462

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 369755

ClinVar RCV Id: RCV000678131 RCV002248637

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Ile205Val	CA10654824 NM_172106.3:c.613A>G