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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:
PA2825151773
Gene: TH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2585563
ClinVar RCV Id:
RCV003338180
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000351.2:p.Val307Ala
CA379126214
NM_000360.3:c.920T>C