Canonical Allele Identifier: PA645453402
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 324540
ClinVar RCV Id: RCV000301623 RCV000358802 RCV000393897 RCV000393899 RCV000486439 RCV000766484 RCV001080027
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000325.4:p.Ala488Thr
CA8709830
NM_000334.4:c.1462G>A