ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA341427
Gene: FGFR3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001156685.1:p.Ser84Leu
NM_001163213.2:c.251C>T