Canonical Allele Identifier: PA2825205701
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 551239
ClinVar RCV Id: RCV000666240

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Leu43_Ser50del
CA658822277
NM_000543.5:c.126_149del