Canonical Allele Identifier: PA2826979068
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2995
ClinVar RCV Id: RCV000003130 RCV000780737 RCV001249038 RCV001824114 RCV001851602
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305017.1:p.Ala177Glu
CA252527
NM_001318088.2:c.530C>A