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: PA2830401806

Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 527698

ClinVar RCV Id: RCV000632643 RCV003302994

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_861969.1:p.Gln370Glu	CA411148854 NM_181831.3:c.1108C>G