Allele Registry

Canonical Allele Identifier: PA2825288621

Gene: SMPD1 HGNC NCBI

ClinVar Variation Id: 2983

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007594.2:p.Ser437Arg	CA252511 NM_001007593.3:c.1311C>A CA379374440 NM_001007593.3:c.1309A>C CA379374454 NM_001007593.3:c.1311C>G