Canonical Allele Identifier: PA2828066758
Gene: SGCE HGNC NCBI
ClinVar RCV:
RCV000557233
ClinVar Variation:
464156
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349738.1:p.Pro116Leu
CA4348786
NM_001362809.2:c.347C>T