Canonical Allele Identifier: PA2828886465
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1326316
ClinVar RCV Id: RCV001786538
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001369164.1:p.Arg58Ser
CA409635323
NM_001382235.1:c.172C>A
CA2573054907
NM_001382235.1:c.171_172delinsAA