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: PA104513

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21793

ClinVar RCV Id: RCV001221931 RCV000678086

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Met208Val	CA342516 NM_172107.3:c.622A>G