Allele Registry

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.

Canonical Allele Identifier: PA2830398965

Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 527709

ClinVar RCV Id: RCV000632654 RCV004025415

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_861968.1:p.Arg263Lys	CA411146842 NM_181830.3:c.788G>A