Canonical Allele Identifier: PA2827592989
Gene: PEX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 281738
ClinVar RCV Id: RCV000307470 RCV001087319 RCV003955435
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338063.1:p.Arg393Gln
CA6426380
NM_001351134.2:c.1178G>A