ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827847089
Gene: FGFR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16279
ClinVar RCV Id:
RCV000017669
RCV000017670
RCV000644520
RCV001200303
RCV002496391
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341296.1:p.Pro250Arg
CA280217
NM_001354367.2:c.749C>G