ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827383434
Gene: SGCE
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002302025
ClinVar Variation:
1719265
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333648.1:p.Glu350Lys
CA4348622
NM_001346719.1:c.1048G>A