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: PA2827140530

Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 96126

ClinVar RCV Id: RCV000082198 RCV000603959 RCV001664382

ClinVar Variation Id: 2799283

ClinVar RCV Id: RCV003668433

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308971.2:p.Asp392Gly	CA149260 NM_001322042.2:c.1175A>G CA2739278721 NM_001322042.2:c.1175_1176delinsGG