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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:
PA915977275
Gene: MAPT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14262
ClinVar RCV Id:
RCV000015331
RCV000084544
RCV000995804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001116538.2:p.Ser655Phe
CA225475
NM_001123066.4:c.1964C>T