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: PA2830402359

Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 435976

ClinVar RCV Id: RCV000499490 RCV000703302 RCV002404314

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_861969.1:p.Glu462Asp	CA411150123 NM_181831.3:c.1386A>C CA411150124 NM_181831.3:c.1386A>T