ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827938550
Gene: FGFR3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134411
ClinVar RCV Id:
RCV000121086
RCV002514639
RCV003556168
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341739.1:p.Lys497Glu
CA159731
NM_001354810.2:c.1489A>G