ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915959922
Gene: PEX2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000309.2:p.Cys184Arg
NM_000318.3:c.550T>C