ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828066963
Gene: SGCE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1063416
ClinVar RCV Id:
RCV001373249
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349738.1:p.Pro349Ala
CA162920306
NM_001362809.2:c.1045C>G