ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826666105
Gene: PEX1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269607.1:p.Ser1062Arg
CA4340719
NM_001282678.2:c.3186T>A
CA4340720
NM_001282678.2:c.3186T>G
CA368158385
NM_001282678.2:c.3184A>C