Canonical Allele Identifier: PA645453755
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 324510
ClinVar RCV Id: RCV000268020 RCV000298506 RCV000323138 RCV000353353 RCV001054673
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000325.4:p.Gln1735His
CA8708818
NM_000334.4:c.5205G>C
CA400613450
NM_000334.4:c.5205G>T