Canonical Allele Identifier: PA916013762
Gene: PEX1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269606.1:p.Gly593Arg
CA161966090
NM_001282677.2:c.1777G>A
CA368187255
NM_001282677.2:c.1777G>C