ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827382253
Gene: SGCE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333642.1:p.Arg173His
CA4348810
NM_001346713.1:c.518G>A