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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:
PA2825568555
Gene: TYMP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2086738
ClinVar RCV Id:
RCV003007635
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107228.1:p.Ser362Leu
CA412197599
NM_001113756.3:c.1085C>T