ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA282147
Gene: EFEMP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
42041
ClinVar RCV Id:
RCV000034874
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_058634.4:p.Arg227Cys
CA282146
NM_016938.5:c.679C>T