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: PA2830344224

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1708673

ClinVar RCV Id: RCV002287957

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Pro32Ala	CA409635772 NM_172106.3:c.94C>G