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: PA2830344519

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 419718

ClinVar RCV Id: RCV000485355

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Glu231Gln	CA16620974 NM_172106.3:c.691G>C