ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825805640
Gene: EFTUD2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000033145
ClinVar Variation:
40047
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136077.1:p.His173Arg
CA261241
NM_001142605.2:c.518A>G