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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:
PA2580206882
Gene: FGFR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1810425
ClinVar RCV Id:
RCV002509912
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307587.1:p.Phe334Tyr
CA5720879
NM_001320658.2:c.1001T>A