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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:
PA658676894
Gene: NF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
457930
ClinVar RCV Id:
RCV000533798
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057502.2:p.His304Arg
CA411145642
NM_016418.5:c.911A>G