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: PA2829529711

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1722230

ClinVar RCV Id: RCV002302383

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Arg155Gly	CA409655279 NM_004518.5:c.463C>G