Canonical Allele Identifier: PA2827069300
Gene: SCN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1311951
ClinVar RCV Id: RCV001761172
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308534.1:p.Glu49del
CA2580613105
NM_001321605.1:c.147_149del