ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825825875
Gene: SGMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1974528
ClinVar RCV Id:
RCV002741439
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129730.1:p.Ile137Met
CA3036761
NM_001136258.2:c.411A>G