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: PA1139751092

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418633

ClinVar RCV Id: RCV000478942 RCV000806523

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742107.1:p.Thr359Ala	CA16620967 NM_172109.3:c.1075A>G