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: PA112012

Gene: FGFR3 HGNC NCBI

Linked Data

ClinVar Variation Id: 16333

ClinVar RCV Id: RCV000017736 RCV000441695 RCV000431173 RCV000757295 RCV001528646 RCV003989293

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Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_000133.1:p.Ser371Cys