ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA261242
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_004238.3:p.His208Arg
CA261241
NM_004247.4:c.623A>G