Allele Registry

Canonical Allele Identifier: PA916002679

Gene: ACADVL HGNC NCBI

ClinVar RCV:

RCV000174652

RCV000696055

ClinVar Variation:

194315

HGVS (amino-acid)	Matching Registered Transcripts
NP_001257376.1:p.Arg479Cys	CA240222 NM_001270447.2:c.1435C>T