ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827591943
Gene: PEX5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338061.1:p.Asn520Ser
CA6426487
NM_001351132.2:c.1559A>G