ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825062147
Gene: FGFR3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2131630
ClinVar RCV Id:
RCV003048303
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000133.1:p.Ala489Val
CA355980965
NM_000142.5:c.1466C>T