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: PA2573185259

Gene: FGFR3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1680062

ClinVar RCV Id: RCV002236436

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001156685.1:p.Val383Lys	CA2573137472 NM_001163213.2:c.1147_1148delinsAA