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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826098584
Gene: FGFR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16290
ClinVar RCV Id:
RCV000017682
RCV002254904
RCV002514106
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167534.1:p.Cys381Arg
CA126356
NM_001174063.2:c.1141T>C