Allele Registry

Canonical Allele Identifier: PA2499272786

Gene: NEFL HGNC NCBI

ClinVar RCV:

RCV001682660

RCV002539681

ClinVar Variation:

1275783

HGVS (amino-acid)	Matching Registered Transcripts
NP_006149.2:p.Pro22Leu	CA370624142 NM_006158.5:c.65C>T