Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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 migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA2828169768

Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 203428

ClinVar RCV Id: RCV000192228 RCV003989497

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001352064.1:p.Lys534Asn	CA347293 NM_001365135.1:c.1602G>C CA379376950 NM_001365135.1:c.1602G>T