Allele Registry

Canonical Allele Identifier: PA1139699250

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV001281423

RCV003235538

ClinVar Variation:

992707

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305016.1:p.Tyr469Cys	CA379375121 NM_001318087.2:c.1406A>G