Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2827937669

Gene: FGFR3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1224471

ClinVar RCV Id: RCV001597538 RCV004542043

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341738.1:p.Val229Ile	CA2809922 NM_001354809.2:c.685G>A