Canonical Allele Identifier: PA2580524964
Gene: SGMS2 HGNC NCBI
ClinVar RCV:
RCV002910192
ClinVar Variation:
2056005
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689834.1:p.Val95Ile
CA3036748
NM_152621.6:c.283G>A