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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:
PA2830396881
Gene: NF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2042756
ClinVar RCV Id:
RCV002908167
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861967.1:p.Met322Thr
CA411147079
NM_181829.3:c.965T>C