Canonical Allele Identifier: PA915992411
Gene: PEX2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165558.1:p.Trp250Arg
CA154235
NM_001172087.1:c.748T>C
CA371556670
NM_001172087.1:c.748T>A