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: PA1139743177

Gene: AHDC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 975326

ClinVar RCV Id: RCV001251885 RCV003106164

ClinVar Variation Id: 2638569

ClinVar RCV Id: RCV003412992

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001358857.1:p.Val574Leu	CA715899 NM_001371928.1:c.1720G>T CA715900 NM_001371928.1:c.1720G>C