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: PA2499289523

Gene: FGFR3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1224471

ClinVar RCV Id: RCV001597538 RCV004542043

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_075254.1:p.Val229Ile	CA2809922 NM_022965.4:c.685G>A