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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:
PA915954550
Gene: TF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12614
ClinVar RCV Id:
RCV000013448
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001054.2:p.Gly277Asp
CA122557
NM_001063.4:c.830G>A