Canonical Allele Identifier: PA2829531324
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 194446
ClinVar RCV Id: RCV000765493 RCV000724023 RCV000781975 RCV001240137 RCV001527628 RCV002317007 RCV003315309
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004509.2:p.Val515Met
CA240402
NM_004518.5:c.1543G>A