×
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.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830396546
Gene: NF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
457930
ClinVar RCV Id:
RCV000533798
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861967.1:p.His263Arg
CA411145642
NM_181829.3:c.788A>G