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: PA1139750661

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 851253

ClinVar RCV Id: RCV001055610

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742107.1:p.Trp270Cys	CA409653342 NM_172109.3:c.810G>T CA409653344 NM_172109.3:c.810G>C