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_001305016.1:p.Val147Leu
CA379368902
NM_001318087.2:c.439G>C
CA379368903
NM_001318087.2:c.439G>T