ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826665303
Gene: PEX1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269606.1:p.Ser1213Arg
CA4340719
NM_001282677.2:c.3639T>A
CA4340720
NM_001282677.2:c.3639T>G
CA368158385
NM_001282677.2:c.3637A>C