Canonical Allele Identifier: PA2829531953
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 855374
ClinVar RCV Id: RCV001060631
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004509.2:p.Cys746Tyr
CA9958100
NM_004518.5:c.2237G>A
CA916083759
NM_004518.5:c.2237_2238delinsAT