Allele Registry

Canonical Allele Identifier: PA234972

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000179324

RCV000806406

RCV001248980

RCV001527430

RCV001814072

ClinVar Variation:

167712

HGVS (amino-acid)	Matching Registered Transcripts
NP_000534.3:p.Arg498His	CA234971 NM_000543.5:c.1493G>A