Canonical Allele Identifier: PA2573086101
Gene: SMS HGNC NCBI

Linked Data

ClinVar Variation Id: 1342113
ClinVar RCV Id: RCV001837703
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004586.2:p.Tyr249Cys
CA412569163
NM_004595.5:c.746A>G