ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645460752
Gene: EFTUD2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000415160
ClinVar Variation:
374152
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004238.3:p.Asn683Tyr
CA16043528
NM_004247.4:c.2047A>T