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: PA2826099412

Gene: FGFR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16290

ClinVar RCV Id: RCV000017682 RCV002254904 RCV002514106

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001167535.1:p.Cys373Arg	CA126356 NM_001174064.2:c.1117T>C