ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830004777
Gene: FGFR3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16349
ClinVar RCV Id:
RCV000017758
RCV000623459
RCV001269614
RCV002262566
RCV002273934
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075254.1:p.Asn428Ser
CA341420
NM_022965.4:c.1283A>G