Canonical Allele Identifier: PA2580189247
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2144068
ClinVar RCV Id: RCV003068208

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269606.1:p.Glu498Asp
CA368190381
NM_001282677.2:c.1494A>T
CA368190384
NM_001282677.2:c.1494A>C