Canonical Allele Identifier: PA916062418
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 205871
ClinVar RCV Id: RCV000187860 RCV002517871
ClinVar Variation Id: 205872
ClinVar RCV Id: RCV000187861 RCV003315317
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742107.1:p.Gln204His
CA315367
NM_172109.3:c.612G>C
CA315369
NM_172109.3:c.612G>T