ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658804933
Gene: PEX6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000278.3:p.Ala693Asp
CA3811137
NM_000287.4:c.2078C>A