ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830004917
Gene: FGFR3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16348
ClinVar RCV Id:
RCV000017757
RCV000144153
RCV000430843
RCV000437923
RCV002228032
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075254.1:p.Lys538Gln
CA170755
NM_022965.4:c.1612A>C