ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829628481
Gene: ENDOU
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006016.1:p.Arg52Cys
CA6531055
NM_006025.4:c.154C>T