Allele Registry

Canonical Allele Identifier: PA245097

Gene: SCN4A HGNC NCBI

ClinVar RCV:

RCV000286779

RCV000303252

RCV000399551

RCV000400438

RCV000713125

RCV000812584

ClinVar Variation:

197134

HGVS (amino-acid)	Matching Registered Transcripts
NP_000325.4:p.Asp185Asn	CA245096 NM_000334.4:c.553G>A