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: PA916078796

Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 527710

ClinVar RCV Id: RCV002431870 RCV000632656

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_861970.1:p.Thr368Ile	CA411147155 NM_181832.3:c.1103C>T