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: PA2741844027

Gene: FGFR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2505453

ClinVar RCV Id: RCV003234721

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001167538.1:p.Arg749Cys	CA370728517 NM_001174067.2:c.2245C>T