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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:
PA2828703779
Gene: MAPT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14261
ClinVar RCV Id:
RCV000015330
RCV000266864
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364196.1:p.Arg5His
CA257191
NM_001377267.1:c.14G>A