Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA2828128855

Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1028326

ClinVar RCV Id: RCV001329351

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350908.1:p.Glu427Asp	CA4610510 NM_001363979.1:c.1281G>C CA370221315 NM_001363979.1:c.1281G>T