ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825061741
Gene: FGFR3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000133.1:p.Pro250Leu
CA355975843
NM_000142.5:c.749C>T