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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:
PA658815373
Gene: NF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
527698
ClinVar RCV Id:
RCV000632643
RCV003302994
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057502.2:p.Gln453Glu
CA411148854
NM_016418.5:c.1357C>G