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: PA2830344743

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 369772

ClinVar RCV Id: RCV000678152 RCV001381684

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Ala309Val	CA10654807 NM_172106.3:c.926C>T