Canonical Allele Identifier: PA303176
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180827
ClinVar Variation:
189874
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Gln899Lys
CA303174
NM_006920.6:c.2695C>A