Allele Registry

Canonical Allele Identifier: PA2825205980

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV001281411

ClinVar Variation:

992695

HGVS (amino-acid)	Matching Registered Transcripts
NP_000534.3:p.Ile334Thr	CA5852727 NM_000543.5:c.1001T>C