ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826472844
Gene: SMS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1806829
ClinVar RCV Id:
RCV002474258
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245352.1:p.Met180Thr
CA412569053
NM_001258423.2:c.539T>C