ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139729538
Gene: EFEMP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_058634.4:p.Cys127Arg
CA381308247
NM_016938.5:c.379T>C