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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:
PA2825873058
Gene: FGFR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13274
ClinVar RCV Id:
RCV000014194
RCV001781263
RCV001037961
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138390.1:p.Thr226Pro
CA280176
NM_001144918.2:c.676A>C