ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741876768
Gene: SGMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2848359
ClinVar RCV Id:
RCV003693216
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362840.1:p.Glu98Lys
CA3036876
NM_001375911.1:c.292G>A