ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827030244
Gene: TEP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305964.1:p.Ile2378Met
CA7078298
NM_001319035.2:c.7134C>G