ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825805947
Gene: EFTUD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374152
ClinVar RCV Id:
RCV000415160
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136077.1:p.Asn648Tyr
CA16043528
NM_001142605.2:c.1942A>T