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: PA2827938453

Gene: FGFR3 HGNC NCBI

Linked Data

ClinVar Variation Id: 134404

ClinVar RCV Id: RCV000121079 RCV000442867 RCV000987395 RCV002277184 RCV002483215

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341739.1:p.Phe384Leu	CA159710 NM_001354810.2:c.1150T>C CA355979069 NM_001354810.2:c.1152C>A CA355979071 NM_001354810.2:c.1152C>G