Canonical Allele Identifier: PA2830319059
Gene: SGMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2198251
ClinVar RCV Id: RCV002629244 RCV002629245
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689834.1:p.Ser244Leu
CA3036861
NM_152621.6:c.731C>T