ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573097992
Gene: PEX16
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476515.2:p.Ala208Val
CA5959897
NM_057174.3:c.623C>T