Canonical Allele Identifier: PA2825288563
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2136988
ClinVar RCV Id: RCV003062328
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Ser380Pro
CA379372998
NM_001007593.3:c.1138T>C