Canonical Allele Identifier: PA2826978879
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 557533
ClinVar RCV Id: RCV000673688 RCV000734509 RCV002532152
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305016.1:p.Arg389His
CA5852802
NM_001318087.2:c.1166G>A