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: PA2573285419

Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1350408

ClinVar RCV Id: RCV002039720

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_078872.3:p.Thr468Ser	CA4610543 NM_024596.5:c.1403C>G CA370221570 NM_024596.5:c.1402A>T