ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916030774
Gene: PEX5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338064.1:p.Thr233Met
CA6426198
NM_001351135.1:c.698C>T