Allele Registry

Canonical Allele Identifier: PA2573198669

Gene: SMPD1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305016.1:p.Phe465Leu	CA379375015 NM_001318087.2:c.1393T>C CA379375032 NM_001318087.2:c.1395T>A CA379375035 NM_001318087.2:c.1395T>G