Canonical Allele Identifier: PA2580189126
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2154298
ClinVar RCV Id: RCV003069208

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269606.1:p.Asp172Val
CA4341583
NM_001282677.2:c.515A>T