Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

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_001352064.1:p.Pro188_Lys189insProThrProProProProProProProProProPro	CA2612221473 NM_001365135.1:c.564_565insCCAACCCCCCCCCCCCCCCCCCCCCCCCCCCCCC... CA2612221478 NM_001365135.1:c.564_565insCCAACCCCCCCCCCCCCCCCCCCCCCCCCCCCCC... CA2612221479 NM_001365135.1:c.564_565insCCAACCCCCCCCCCCCCCCCCCCCCCCCCCCCCC... CA2790302233 NM_001365135.1:c.564_565insCCAACCCCCCCCCCCCCCCCCCCCCCCCCGCCCC...