Canonical Allele Identifier: PA2827382608
Gene: SGCE HGNC NCBI
ClinVar RCV:
RCV000557233
ClinVar Variation:
464156
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001333644.1:p.Pro193Leu
CA4348786
NM_001346715.1:c.578C>T