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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:
PA2828881477
Gene: FUT6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16239
ClinVar RCV Id:
RCV000017626
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001368886.1:p.Glu247Lys
CA126286
NM_001381957.1:c.739G>A