ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916051127
Gene: EFEMP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
650013
ClinVar RCV Id:
RCV000805082
RCV001592999
RCV002424870
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_058634.4:p.Val87Ile
CA6110735
NM_016938.5:c.259G>A