Allele Registry

Canonical Allele Identifier: PA2826979129

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000414036

ClinVar Variation:

372512

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305017.1:p.Leu214Arg	CA16042855 NM_001318088.2:c.641T>G