ClinGen Allele Registry
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Canonical Allele Identifier:
PA126387
Gene: FGFR3
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001156685.1:p.Arg623His
NM_001163213.2:c.1868G>A