Canonical Allele Identifier: PA916013739
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 360928
ClinVar RCV Id: RCV000405009 RCV000728937 RCV001277057 RCV003970059
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269606.1:p.Glu460Asp
CA4341409
NM_001282677.2:c.1380A>C
CA368191426
NM_001282677.2:c.1380A>T