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
NP_001007594.2:p.Glu334Asp
CA379371611
NM_001007593.3:c.1002G>C
CA379371612
NM_001007593.3:c.1002G>T