ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916039460
Gene: FGFR3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16335
ClinVar RCV Id:
RCV000017738
RCV000520562
RCV002504801
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341739.1:p.Val784Glu
CA341404
NM_001354810.2:c.2351T>A