Canonical Allele Identifier: PA2826978972
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3166640
ClinVar RCV Id: RCV004462024

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305017.1:p.Ile58Thr
CA379372685
NM_001318088.2:c.173T>C