Canonical Allele Identifier: PA916013699
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 283861
ClinVar RCV Id: RCV000344496 RCV000958357 RCV001420988 RCV003437048 RCV003955455
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269606.1:p.Ile312Val
CA4341516
NM_001282677.2:c.934A>G