Canonical Allele Identifier: PA916043491
Gene: SGCE HGNC NCBI
ClinVar RCV:
RCV000557233
ClinVar Variation:
464156
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349737.1:p.Pro66Leu
CA4348786
NM_001362808.2:c.197C>T