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: PA2830394365

Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2198567

ClinVar RCV Id: RCV002629485 RCV004070828

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_861966.1:p.Met321Ile	CA411147083 NM_181828.3:c.963G>T CA411147084 NM_181828.3:c.963G>A CA411147086 NM_181828.3:c.963G>C