Canonical Allele Identifier: PA2825288482
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2989
ClinVar RCV Id: RCV000003123 RCV000175622 RCV000192222 RCV000984009 RCV001380607
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Leu303Pro
CA221154
NM_001007593.3:c.908T>C