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: PA645386558

Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 412204

ClinVar RCV Id: RCV000471284 RCV002329084

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_057502.2:p.Arg160Trp	CA033584 NM_016418.5:c.478C>T