Canonical Allele Identifier: PA916013787
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285000
ClinVar RCV Id: RCV000306324 RCV000889675 RCV001355075 RCV001420972 RCV003977775
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269607.1:p.Leu5Phe
CA4341565
NM_001282678.2:c.13C>T