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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:
PA2573168149
Gene: TPP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1379786
ClinVar RCV Id:
RCV001914934
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000382.3:p.Pro160Ala
CA379475738
NM_000391.4:c.478C>G