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: PA2830392370

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_861546.1:p.Met363Thr	CA411147079 NM_181825.3:c.1088T>C