Canonical Allele Identifier: PA2826472845
Gene: SMS HGNC NCBI

Linked Data

ClinVar Variation Id: 198516
ClinVar RCV Id: RCV000179890
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245352.1:p.Met180Ile
CA247199
NM_001258423.2:c.540G>A
CA412569055
NM_001258423.2:c.540G>C
CA412569056
NM_001258423.2:c.540G>T