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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:
PA2573074222
Gene: MAPT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14259
ClinVar RCV Id:
RCV000015328
RCV000084515
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364194.1:p.Lys649Thr
CA225413
NM_001377265.1:c.1946A>C