ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107693
Gene: PEX12
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000277.1:p.Ser320Phe
NM_000286.3:c.959C>T