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
ENSP00000340409.4:p.Ser250Arg
CA5852678
ENST00000342245.8:c.748A>C
CA379370932
ENST00000342245.8:c.750C>A
CA379370933
ENST00000342245.8:c.750C>G