Canonical Allele Identifier: PA2827596131
Gene: PEX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 281738
ClinVar RCV Id: RCV000307470 RCV001087319 RCV003955435
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338069.1:p.Arg348Gln
CA6426380
NM_001351140.1:c.1043G>A