ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825825929
Gene: SGMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2198251
ClinVar RCV Id:
RCV002629244
RCV002629245
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129730.1:p.Ser244Leu
CA3036861
NM_001136258.2:c.731C>T