Canonical Allele Identifier: PA916045124
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370432
ClinVar RCV Id: RCV000409293 RCV001229670 RCV001248876 RCV002223835
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Arg230Cys
CA16041480
NM_001365135.1:c.688C>T