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: PA2830347285

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2689297

ClinVar RCV Id: RCV003487955 RCV003753299

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.His648Arg	CA9958165 NM_172108.3:c.1943A>G