ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825805997
Gene: EFTUD2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000480810
ClinVar Variation:
423361
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136077.1:p.Pro743His
CA16620453
NM_001142605.2:c.2228C>A