Canonical Allele Identifier: PA2830319050
Gene: SGMS2 HGNC NCBI
ClinVar RCV:
RCV003672750
ClinVar Variation:
2794295
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689834.1:p.Gly228Ser
CA3036834
NM_152621.6:c.682G>A