ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827595080
Gene: PEX5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338067.1:p.Arg371Gln
CA6426380
NM_001351138.2:c.1112G>A