ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139755449
Gene: PEX16
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476515.2:p.Arg198Trp
CA5959912
NM_057174.3:c.592C>T