Allele Registry

Canonical Allele Identifier: PA2741851870

Gene: PEX1 HGNC NCBI

ClinVar RCV:

RCV003334369

ClinVar Variation:

2583117

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269606.1:p.Trp116Arg	CA368202903 NM_001282677.2:c.346T>C CA368202906 NM_001282677.2:c.346T>A