Allele Registry

Canonical Allele Identifier: PA1139699254

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV001281424

ClinVar Variation:

992708

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305016.1:p.Arg476Gly	CA379375269 NM_001318087.2:c.1426C>G