ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830004695
Gene: FGFR3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001580560
ClinVar Variation:
837898
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075254.1:p.Pro348Leu
CA2810373
NM_022965.4:c.1043C>T