Allele Registry

Canonical Allele Identifier: PA221145

Gene: SMPD1 HGNC NCBI

ClinVar Allele:

99220

ClinVar RCV:

RCV000178118

RCV000984310

RCV000984311

ClinVar Variation:

93313

HGVS (amino-acid)	Matching Registered Transcripts
NP_000534.3:p.Cys433Trp	CA221144 NM_000543.5:c.1299T>G