Canonical Allele Identifier: PA282147
Gene: EFEMP2 HGNC NCBI
ClinVar RCV:
RCV000034874
ClinVar Variation:
42041
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_058634.4:p.Arg227Cys
CA282146
NM_016938.5:c.679C>T