Canonical Allele Identifier: PA2825288683
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2024216
ClinVar RCV Id: RCV002863151

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Gly491Arg
CA379375554
NM_001007593.3:c.1471G>C