Canonical Allele Identifier: PA2826978784
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 305201
ClinVar RCV Id: RCV000293370 RCV000675395 RCV000592219 RCV001081788 RCV001249056
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305016.1:p.Val301Ile
CA5852706
NM_001318087.2:c.901G>A