ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826665985
Gene: PEX1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269607.1:p.Leu818Pro
CA161954483
NM_001282678.2:c.2453T>C