Canonical Allele Identifier: PA2829529669
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 452487
ClinVar RCV Id: RCV000521018 RCV000760201 RCV001089799 RCV001266450 RCV001291707 RCV002525240 RCV003315351
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004509.2:p.Arg144Trp
CA409655455
NM_004518.5:c.430C>T