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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:
PA915977326
Gene: MAPT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14247
ClinVar RCV Id:
RCV000015316
RCV000084554
RCV002476970
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001116538.2:p.Arg741Trp