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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:
PA2827848369
Gene: FGFR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2658547
ClinVar RCV Id:
RCV003436868
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341298.1:p.Cys599Tyr
CA370731616
NM_001354369.2:c.1796G>A