Canonical Allele Identifier: PA2827773949
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68619
ClinVar RCV Id: RCV000059496
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Ser1220Arg
CA285135
NM_001353952.2:c.3660T>A
CA349055681
NM_001353952.2:c.3660T>G
CA349055688
NM_001353952.2:c.3658A>C