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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:
PA2830394624
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_861966.1:p.Gln411Glu
CA411148854
NM_181828.3:c.1231C>G