Allele Registry

Canonical Allele Identifier: PA645503930

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV001004367

RCV001384265

ClinVar Variation:

242451

HGVS (amino-acid)	Matching Registered Transcripts
NP_000534.3:p.Tyr448Cys	CA5852881 NM_000543.5:c.1343A>G