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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:
PA2825135364
Gene: NF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
527710
ClinVar RCV Id:
RCV002431870
RCV000632656
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000259.1:p.Thr368Ile
CA411147155
NM_000268.4:c.1103C>T