ClinGen Allele Registry
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Canonical Allele Identifier:
PA3074458045
Gene: PEX1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000457.1:p.Gln1190Arg
CA368161411
NM_000466.3:c.3569A>G