Canonical Allele Identifier: PA1139677348
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 863998
ClinVar RCV Id: RCV001071087
ClinVar Variation Id: 1046053
ClinVar RCV Id: RCV001350560

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000325.4:p.Phe567Leu
CA400633530
NM_000334.4:c.1701C>G
CA400633532
NM_000334.4:c.1701C>A
CA400633547
NM_000334.4:c.1699T>C