ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645475147
Gene: EFEMP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
305378
ClinVar RCV Id:
RCV000658599
RCV001080329
RCV002379175
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_058634.4:p.Arg326His
CA6110443
NM_016938.5:c.977G>A