ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit
here
for the production version.
This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
Get Identifier
Gene: SMPD1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
ENSP00000435350.1:p.Arg497Leu
CA252505
ENST00000527275.5:c.1490G>T