Canonical Allele Identifier: PA2499231280
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 1002768
ClinVar RCV Id: RCV001299240 RCV002504445
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000325.4:p.Lys566Asn
CA400633555
NM_000334.4:c.1698G>T
CA400633558
NM_000334.4:c.1698G>C