Canonical Allele Identifier: PA2741872170
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2947279
ClinVar RCV Id: RCV003801469

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Ala100Val
CA379368476
NM_001365135.1:c.299C>T