Canonical Allele Identifier: PA2827761207
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180924
ClinVar Variation:
189970
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Asp1691Glu
CA303444
NM_001353949.2:c.5073T>A
CA349069185
NM_001353949.2:c.5073T>G