Canonical Allele Identifier: PA2580305334
Gene: SMS HGNC NCBI

Linked Data

ClinVar Variation Id: 1710545
ClinVar RCV Id: RCV002291832
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004586.2:p.Cys248Gly
CA412569152
NM_004595.5:c.742T>G