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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:
PA2828704018
Gene: MAPT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14266
ClinVar RCV Id:
RCV000015336
RCV000084517
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364197.1:p.Leu208Val
CA225417
NM_001377268.1:c.622C>G