Allele Registry

Canonical Allele Identifier: PA221148

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000169170

RCV000178791

RCV000192226

RCV000688387

RCV000781863

RCV003925040

ClinVar Variation:

93315

HGVS (amino-acid)	Matching Registered Transcripts
NP_000534.3:p.Arg476Trp	CA221147 NM_000543.5:c.1426C>T