Canonical Allele Identifier: PA2825775502
Gene: PEX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 310435
ClinVar RCV Id: RCV000371902 RCV001202630 RCV003147446 RCV003920292
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124496.1:p.Met597Ile
CA6426621
NM_001131024.2:c.1791G>A
CA383740941
NM_001131024.2:c.1791G>T
CA383740945
NM_001131024.2:c.1791G>C