Canonical Allele Identifier: PA2825288496
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 992693
ClinVar RCV Id: RCV001281409

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Gly318Ser
CA379371363
NM_001007593.3:c.952G>A