ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826066170
Gene: ENDOU
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165911.1:p.Arg30Cys
CA6531055
NM_001172440.2:c.88C>T