ClinGen Allele Registry
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Canonical Allele Identifier:
PA239729
Gene: FGFR3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001156685.1:p.Lys519Arg
CA239727
NM_001163213.2:c.1556A>G