Canonical Allele Identifier: PA916045090
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 500518
ClinVar RCV Id: RCV000591040 RCV001442227
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Arg79Gln
CA5852531
NM_001365135.1:c.236G>A