Canonical Allele Identifier: PA2829531313
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2433027
ClinVar RCV Id: RCV003133812 RCV004538900
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004509.2:p.Arg513Lys
CA409645150
NM_004518.5:c.1538G>A