Allele Registry

Canonical Allele Identifier: PA916022261

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000931568

ClinVar Variation:

754253

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305017.1:p.Ser13Leu	CA5852726 NM_001318088.2:c.38C>T