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: PA1139719283

Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 925788

ClinVar RCV Id: RCV001187954 RCV003770106 RCV004008752

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004406.2:p.Cys1913Ser	CA133972251 NM_004415.4:c.5738G>C CA362689304 NM_004415.4:c.5737T>A