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: PA1139690173

Gene: FGFR3 HGNC NCBI

Linked Data

ClinVar Variation Id: 988310

ClinVar RCV Id: RCV001269575

ClinVar Variation Id: 1684537

ClinVar RCV Id: RCV002245545 RCV002274252

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001156685.1:p.Val557Leu	CA355981675 NM_001163213.2:c.1669G>C CA355981676 NM_001163213.2:c.1669G>T