Canonical Allele Identifier: PA267591
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 100731
ClinVar RCV Id: RCV000087097 RCV000169278 RCV000594578 RCV000689686 RCV001248881
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Gly247Ser
CA267590
NM_000543.5:c.739G>A