ClinGen Allele Registry
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Canonical Allele Identifier:
PA111868
Gene: FGFR3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000133.1:p.Asn540Lys
CA341410
NM_000142.5:c.1620C>A
CA341412
NM_000142.5:c.1620C>G