Canonical Allele Identifier: PA2573194052
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1366034
ClinVar RCV Id: RCV001944485

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269606.1:p.Phe315Leu
CA368198846
NM_001282677.2:c.945T>G
CA368198847
NM_001282677.2:c.945T>A
CA368198856
NM_001282677.2:c.943T>C