Allele Registry

Canonical Allele Identifier: PA658804854

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000596004

RCV001037515

ClinVar Variation:

502573

HGVS (amino-acid)	Matching Registered Transcripts
NP_000534.3:p.Pro184Leu	CA5852623 NM_000543.5:c.551C>T