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: PA2827847274

Gene: FGFR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 376429

ClinVar RCV Id: RCV000425019 RCV000424432 RCV000435153 RCV000443693 RCV000443832

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341296.1:p.Asn544Asp	CA16602864 NM_001354367.2:c.1630A>G