Allele Registry

Canonical Allele Identifier: PA2825205848

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV001281403

ClinVar Variation:

992687

HGVS (amino-acid)	Matching Registered Transcripts
NP_000534.3:p.Cys223Gly	CA379370729 NM_000543.5:c.667T>G