Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA2826978497

Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 968932

ClinVar RCV Id: RCV001244173 RCV001829920

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305016.1:p.Leu35_Val36insAlaLeuAlaLeu	CA472909376 NM_001318087.2:c.106_107insCGCTGGCGCTGG CA918811630 NM_001318087.2:c.106_107insCGCTGGCGCTGGCGCTGG CA1950145687 NM_001318087.2:c.106_107insCGCTGGCGCTGGCGCTGGCGCTGG