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: PA2827847377

Gene: FGFR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2505447

ClinVar RCV Id: RCV003234715

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341296.1:p.Ser683Cys	CA370729150 NM_001354367.2:c.2048C>G