ClinGen Allele Registry
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Canonical Allele Identifier:
PA916051154
Gene: EFEMP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_058634.4:p.Val316Leu
CA6110472
NM_016938.5:c.946G>T
CA6110474
NM_016938.5:c.946G>C