Allele Registry

Canonical Allele Identifier: PA1139742710

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV001281403

ClinVar Variation:

992687

HGVS (amino-acid)	Matching Registered Transcripts
NP_001352064.1:p.Cys223Gly	CA379370729 NM_001365135.1:c.667T>G