ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830018812
Gene: FGFR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2933485
ClinVar RCV Id:
RCV003790603
RCV004539137
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075593.1:p.Thr694Ile
CA370726938
NM_023105.3:c.2081C>T