ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827594726
Gene: PEX5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338066.2:p.Asn483Ser
CA6426487
NM_001351137.3:c.1448A>G