ClinGen Allele Registry
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Canonical Allele Identifier:
PA658674181
Gene: EFEMP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000556089
RCV001591263
RCV002341433
RCV003980005
ClinVar Variation:
472828
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_058634.4:p.Arg169His
CA6110628
NM_016938.5:c.506G>A