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: PA2827141505

Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 96126

ClinVar RCV Id: RCV000082198 RCV000603959 RCV001664382

ClinVar Variation Id: 2799283

ClinVar RCV Id: RCV003668433

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308974.2:p.Asp358Gly	CA149260 NM_001322045.2:c.1073A>G CA2739278721 NM_001322045.2:c.1073_1074delinsGG