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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:
PA2825568349
Gene: TYMP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
223032
ClinVar RCV Id:
RCV000208713
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107228.1:p.Leu177Pro
CA16616782
NM_001113756.3:c.530T>C