ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3069888189
Gene: FGFR3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000133.1:p.Asp513His
CA355981399
NM_000142.5:c.1537G>C