Canonical Allele Identifier: PA240688
Gene: PEX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 194614
ClinVar RCV Id: RCV000175024 RCV000329888 RCV000660592 RCV001046733 RCV002516657 RCV003947478
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000310.2:p.Ser597Asn
CA240687
NM_000319.5:c.1790G>A