ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828635433
Gene: SGMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2868107
ClinVar RCV Id:
RCV003703151
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362835.1:p.Ile172Val
CA3036790
NM_001375906.1:c.514A>G