Canonical Allele Identifier: PA2573194166
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1376016
ClinVar RCV Id: RCV001885676

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269607.1:p.Gln941His
CA4340814
NM_001282678.2:c.2823A>T
CA368162286
NM_001282678.2:c.2823A>C