ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828066966
Gene: SGCE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1059320
ClinVar RCV Id:
RCV001368574
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349738.1:p.Pro350Ser
CA368228928
NM_001362809.2:c.1048C>T