Canonical Allele Identifier: PA2825536930
Gene: SGCE HGNC NCBI
ClinVar RCV:
RCV000639693
ClinVar Variation:
532793
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001092871.1:p.Pro399Leu
CA4348607
NM_001099401.2:c.1196C>T