Canonical Allele Identifier: PA2580109435
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 2130884
ClinVar RCV Id: RCV003047922
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000325.4:p.Ala1750Thr
CA400613225
NM_000334.4:c.5248G>A