Canonical Allele Identifier: PA2825288436
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 992689
ClinVar RCV Id: RCV001281405
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Leu265Pro
CA379371031
NM_001007593.3:c.794T>C