Canonical Allele Identifier: PA146860
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93317
ClinVar RCV Id: RCV000079195 RCV000336908 RCV000588146 RCV001511035 RCV001533322
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Gly508Arg
CA146859
NM_000543.5:c.1522G>A
CA347284
NM_000543.5:c.1522G>C