Canonical Allele Identifier: PA2827592522
Gene: PEX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 9143
ClinVar RCV Id: RCV000009714 RCV000427819 RCV000723322
ClinVar Variation Id: 2978647
ClinVar RCV Id: RCV003839293
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338062.1:p.Asn526Lys
CA254664
NM_001351133.2:c.1578T>G
CA383737743
NM_001351133.2:c.1578T>A