Allele Registry

Canonical Allele Identifier: PA201121

Gene: SCN4A HGNC NCBI

ClinVar RCV:

RCV000174672

RCV000710210

RCV001085657

RCV002516640

ClinVar Variation:

194329

HGVS (amino-acid)	Matching Registered Transcripts
NP_000325.4:p.Asn916Lys	CA201120 NM_000334.4:c.2748C>G CA400625207 NM_000334.4:c.2748C>A