ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA200126
Gene: EEF1A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
192251
ClinVar RCV Id:
RCV000172839
RCV000845037
RCV003444211
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001949.1:p.Asp252His
CA200125
NM_001958.5:c.754G>C