Canonical Allele Identifier: PA2573062840
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1307482
ClinVar RCV Id: RCV001760900 RCV002034461 RCV003247012
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Gln732Arg
CA4341200
NM_000466.3:c.2195A>G