Canonical Allele Identifier: PA2827785970
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180922
ClinVar Variation:
189968
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Thr1272Arg
CA303438
NM_001353958.2:c.3815C>G