ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828066535
Gene: SGCE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3160987
ClinVar RCV Id:
RCV004455873
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349737.1:p.Arg199Cys
CA4348699
NM_001362808.2:c.595C>T