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: PA916078873

Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 485981

ClinVar RCV Id: RCV000562953 RCV000693900 RCV003148796

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_861970.1:p.Asp567Asn	CA032649 NM_181832.3:c.1699G>A