ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA357252
Gene: FGFR3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
446185
ClinVar RCV Id:
RCV002231193
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000133.1:p.Leu377Arg
CA357251
NM_000142.5:c.1130T>G