Canonical Allele Identifier: PA2825288503
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2020354
ClinVar RCV Id: RCV002857215

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Pro324Ser
CA379371452
NM_001007593.3:c.970C>T