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: PA2830401336

Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2784564

ClinVar RCV Id: RCV003607666

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_861969.1:p.Gln279Arg	CA411147062 NM_181831.3:c.836A>G