ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827848152
Gene: FGFR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16303
ClinVar RCV Id:
RCV000030940
RCV002514107
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341298.1:p.Arg248Gln
CA260625
NM_001354369.2:c.743G>A