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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:
PA916024577
Gene: FGFR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13264
ClinVar RCV Id:
RCV000014175
RCV001214882
RCV001723564
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307587.1:p.Tyr340His
CA280169
NM_001320658.2:c.1018T>C