ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915959306
Gene: PEX12
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000277.1:p.Leu245Ile
NM_000286.3:c.733T>A