Canonical Allele Identifier: PA2825825840
Gene: SGMS2 HGNC NCBI
ClinVar RCV:
RCV001997577
ClinVar Variation:
1449494
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129730.1:p.Gly40Asp
CA357834952
NM_001136258.2:c.119G>A