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: PA2830347039

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 530434

ClinVar RCV Id: RCV000636298 RCV001771861

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Arg467His	CA9958448 NM_172108.3:c.1400G>A