Canonical Allele Identifier: PA2827786618
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180849
ClinVar Variation:
189897
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Asn1644His
CA303241
NM_001353958.2:c.4930A>C