Canonical Allele Identifier: PA2825825845
Gene: SGMS2 HGNC NCBI
ClinVar RCV:
RCV003665349
ClinVar Variation:
2779806
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129730.1:p.Thr53Asn
CA357835041
NM_001136258.2:c.158C>A