ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3073913802
Gene: PEX1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000457.1:p.Leu1188Phe
CA161952198
NM_000466.3:c.3562C>T