ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA129143
Gene: PEX16
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004804.1:p.Tyr331Cys
CA129142
NM_004813.3:c.992A>G