Allele Registry

Canonical Allele Identifier: PA645503884

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000297445

RCV000728558

RCV001085400

RCV003950024

ClinVar Variation:

305197

HGVS (amino-acid)	Matching Registered Transcripts
NP_000534.3:p.Val117Met	CA5852586 NM_000543.5:c.349G>A