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: PA2825135326

Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 412205

ClinVar RCV Id: RCV000457098 RCV001017145 RCV003235230

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000259.1:p.Arg351His	CA036706 NM_000268.4:c.1052G>A