Canonical Allele Identifier: PA303436
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180920
ClinVar Variation:
189966
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Asp1703Val
CA303433
NM_001165963.4:c.5108A>T