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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:
PA2829855448
Gene: MAPT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
808285
ClinVar RCV Id:
RCV000996569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_058519.3:p.Leu693Val
CA399984293
NM_016835.5:c.2077C>G