Canonical Allele Identifier: PA2830344248
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_742104.1:p.Arg58Ser
CA409635323
NM_172106.3:c.172C>A
CA2573054907
NM_172106.3:c.171_172delinsAA