ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828635463
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_001362835.1:p.Glu271Lys
CA3036876
NM_001375906.1:c.811G>A