Canonical Allele Identifier: PA2741851870
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2583117
ClinVar RCV Id: RCV003334369
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269606.1:p.Trp116Arg
CA368202903
NM_001282677.2:c.346T>C
CA368202906
NM_001282677.2:c.346T>A