ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658815668
Gene: EFEMP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
540027
ClinVar RCV Id:
RCV000649947
RCV002334188
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_058634.4:p.Val395Ile
CA6110375
NM_016938.5:c.1183G>A