ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA280225
Gene: FGFR3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000133.1:p.Ser279Cys
NM_000142.5:c.835A>T