ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100576
Gene: EFEMP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_058634.4:p.Cys267Tyr
CA281758
NM_016938.5:c.800G>A