Canonical Allele Identifier: PA2825288467
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2994
ClinVar RCV Id: RCV000003128 RCV000003129 RCV000169297 RCV000812595 RCV000781865 RCV001248931 RCV002512693 RCV003333947
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Gln293Lys
CA115901
NM_001007593.3:c.877C>A