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: PA2829530229

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 372909

ClinVar RCV Id: RCV000414529

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Phe248Ser	CA16043147 NM_004518.5:c.743T>C