Canonical Allele Identifier: PA2825288789
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2070825
ClinVar RCV Id: RCV002959192

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Phe573Val
CA379376891
NM_001007593.3:c.1717T>G