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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:
PA2826073222
Gene: TK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450835
ClinVar RCV Id:
RCV000521757
RCV001249199
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166115.1:p.Asp141Val
CA282177615
NM_001172644.2:c.422A>T