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: PA2830394361

Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 969901

ClinVar RCV Id: RCV001245353

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_861966.1:p.Met321Lys	CA411147077 NM_181828.3:c.962T>A