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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:
PA2830401349
Gene: NF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
969901
ClinVar RCV Id:
RCV001245353
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861969.1:p.Met280Lys
CA411147077
NM_181831.3:c.839T>A