ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA261242
Gene: EFTUD2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004238.3:p.His208Arg
CA261241
NM_004247.4:c.623A>G