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
ENSP00000434353.1:p.Phe173Leu
CA379369769
ENST00000534405.5:c.517T>C
CA379369778
ENST00000534405.5:c.519C>A
CA379369779
ENST00000534405.5:c.519C>G