Canonical Allele Identifier: PA303440
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180922
ClinVar Variation:
189968
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Thr1289Arg
CA303438
NM_006920.6:c.3866C>G