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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:
PA2573167902
Gene: TIMP3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1351499
ClinVar RCV Id:
RCV002044771
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000353.1:p.His181Arg
CA411540357
NM_000362.5:c.542A>G