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
ENSP00000435950.1:p.[Gly29_Met33delinsArgThrProLeuAsp;Leu35_Leu37delinsProGly;Leu39Gly;Leu41Gly;Leu43Gly;Leu45Gly;Leu47Gly;Leu49Gly;Asp51_Arg53del;Leu55_Trp56del;Pro58_Ala59del]
CA597438122
ENST00000533123.5:c.84dup