Canonical Allele Identifier: PA2827760824
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000417022
ClinVar Variation:
375515
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Asn1594Ile
CA16044312
NM_001353949.2:c.4781A>T