Allele Registry

Canonical Allele Identifier: PA350733

Gene: NEFL HGNC NCBI

ClinVar Allele:

221758

ClinVar RCV:

RCV000206730

RCV000518282

RCV002381708

ClinVar Variation:

220372

HGVS (amino-acid)	Matching Registered Transcripts
NP_006149.2:p.Arg323Pro	CA350731 NM_006158.5:c.968G>C