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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:
PA2826072779
Gene: TK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12709
ClinVar RCV Id:
RCV000013546
RCV003556012
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166114.1:p.Ile181Asn
CA341231
NM_001172643.1:c.542T>A