Canonical Allele Identifier: PA2825536545
Gene: SGCE HGNC NCBI
ClinVar RCV:
RCV001373249
ClinVar Variation:
1063416
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001092870.1:p.Pro390Ala
CA162920306
NM_001099400.2:c.1168C>G