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: PA2825217594

Gene: DDC HGNC NCBI

Linked Data

ClinVar Variation Id: 908407

ClinVar RCV Id: RCV001158898

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000781.2:p.Val184Leu	CA4262341 NM_000790.4:c.550G>C CA367526642 NM_000790.4:c.550G>T