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.

Canonical Allele Identifier: PA2825288568

Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2986

ClinVar RCV Id: RCV000003120 RCV000596113

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007594.2:p.Met383Ile	CA252515 NM_001007593.3:c.1149G>A CA379373046 NM_001007593.3:c.1149G>C CA379373050 NM_001007593.3:c.1149G>T