Canonical Allele Identifier: PA2573194048
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1494451
ClinVar RCV Id: RCV002015009
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269606.1:p.Leu218Val
CA368200677
NM_001282677.2:c.652C>G