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: PA2825217239

Gene: DDC HGNC NCBI

Linked Data

ClinVar Variation Id: 1168240

ClinVar RCV Id: RCV001528747 RCV001518342

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000781.2:p.Met17Val	CA4262512 NM_000790.4:c.49A>G CA2573142191 NM_000790.4:c.48_49delinsTG