Canonical Allele Identifier: PA2826008829
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000585829
ClinVar Variation:
495268
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Pro113Arg
CA349076981
NM_001165963.4:c.338C>G