ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916069215
Gene: FGFR3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075254.1:p.Arg248Cys
CA126378
NM_022965.4:c.742C>T