Allele Registry

Canonical Allele Identifier: PA2825288659

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000169170

RCV000178791

RCV000192226

RCV000688387

RCV000781863

RCV003925040

ClinVar Variation:

93315

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007594.2:p.Arg475Trp	CA221147 NM_001007593.3:c.1423C>T