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_000534.3:p.Pro188_Lys189insProProProAsnProPro
CA2612221533
NM_000543.5:c.564_565insCCACCCCCCAACCCCCCCCCCCCCCCAGGCCCCCCC
CA2790302310
NM_000543.5:c.564_565insCCACCCCCCAACCCCCCC