ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827847594
Gene: FGFR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2000190
ClinVar RCV Id:
RCV002797331
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341297.1:p.Val240Phe
CA370734265
NM_001354368.2:c.718G>T