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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:
PA2828704059
Gene: MAPT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14255
ClinVar RCV Id:
RCV000517183
RCV001851871
RCV000015324
ClinVar Variation Id:
98232
ClinVar RCV Id:
RCV000084553
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364197.1:p.Gly300Arg
CA225494
NM_001377268.1:c.898G>C
CA257189
NM_001377268.1:c.898G>A