Canonical Allele Identifier: PA2499245393
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1000599
ClinVar RCV Id: RCV001296754 RCV003898288
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269607.1:p.Ala92Ser
CA4341522
NM_001282678.2:c.274G>T