Canonical Allele Identifier: PA2826665565
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1362213
ClinVar RCV Id: RCV001900071
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269607.1:p.Leu348Phe
CA368188209
NM_001282678.2:c.1044G>T
CA368188214
NM_001282678.2:c.1044G>C