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: PA2827848446

Gene: FGFR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 180160

ClinVar RCV Id: RCV000156967 RCV001795280 RCV001251086 RCV004535018

ClinVar Variation Id: 435188

ClinVar RCV Id: RCV000503490

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341298.1:p.Gly683Arg	CA185894 NM_001354369.2:c.2047G>A CA370729121 NM_001354369.2:c.2047G>C