ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830059948
Gene: CD1E
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_112155.2:p.Gln143Arg
CA342995925
NM_030893.4:c.428A>G