Canonical Allele Identifier: PA2826665223
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1441026
ClinVar RCV Id: RCV001979003
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269606.1:p.Leu1104Phe
CA4340810
NM_001282677.2:c.3312G>C
CA368161962
NM_001282677.2:c.3312G>T