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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:
PA915977489
Gene: TYMP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
766178
ClinVar RCV Id:
RCV000944682
RCV001276281
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001944.1:p.Ser65Asn
CA10321859
NM_001953.5:c.194G>A