Canonical Allele Identifier: PA2826978858
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1173971
ClinVar RCV Id: RCV001527423

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305016.1:p.Leu371Pro
CA379372837
NM_001318087.2:c.1112T>C