ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645478162
Gene: PEX16
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476515.1:p.Arg227Trp
CA16619326
NM_057174.2:c.679C>T