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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:
PA915977308
Gene: MAPT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
98231
ClinVar RCV Id:
RCV000084551
RCV000692998
RCV003905079
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001116538.2:p.Val698Ile
CA225490
NM_001123066.4:c.2092G>A