ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100563
Gene: EFEMP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5424
ClinVar RCV Id:
RCV000005757
RCV000032275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_058634.4:p.Arg279Cys
CA281559
NM_016938.5:c.835C>T