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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:
PA2828127427
Gene: FTO
HGNC
NCBI
Linked Data
ClinVar Variation Id:
319681
ClinVar RCV Id:
RCV000398676
RCV000895438
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350832.1:p.Ala134Thr
CA8058372
NM_001363903.1:c.400G>A