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: PA916078795

Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 822147

ClinVar RCV Id: RCV001017255 RCV002549449

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_861970.1:p.Lys364Asn	CA411147099 NM_181832.3:c.1092A>C CA411147101 NM_181832.3:c.1092A>T