ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658674177
Gene: EFEMP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
472824
ClinVar RCV Id:
RCV000542730
RCV002324035
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_058634.4:p.Ser137Cys
CA381307982
NM_016938.5:c.409A>T