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: PA2830399032

Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 848750

ClinVar RCV Id: RCV001052574 RCV003160412

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_861968.1:p.Met280Arg	CA411147080 NM_181830.3:c.839T>G