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: PA2830344597

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21801

ClinVar RCV Id: RCV000678094

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Asn258Ser	CA342531 NM_172106.3:c.773A>G