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: PA2828126003

Gene: SLC33A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1469748

ClinVar RCV Id: RCV001995036

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350812.1:p.Ser67Arg	CA2677439 NM_001363883.1:c.201C>G CA355144162 NM_001363883.1:c.201C>A CA355144170 NM_001363883.1:c.199A>C