Allele Registry

Canonical Allele Identifier: PA2825288371

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV001281403

ClinVar Variation:

992687

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007594.2:p.Cys222Gly	CA379370729 NM_001007593.3:c.664T>G