Allele Registry

Canonical Allele Identifier: PA2825288635

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV001004367

RCV001384265

ClinVar Variation:

242451

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007594.2:p.Tyr447Cys	CA5852881 NM_001007593.3:c.1340A>G