Canonical Allele Identifier: PA2826979081
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2024216
ClinVar RCV Id: RCV002863151

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305017.1:p.Gly185Arg
CA379375554
NM_001318088.2:c.553G>C