Canonical Allele Identifier: PA2826665791
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1494928
ClinVar RCV Id: RCV002015133

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269607.1:p.Arg590Cys
CA4341140
NM_001282678.2:c.1768C>T