×
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:
PA2825135315
Gene: NF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
527709
ClinVar RCV Id:
RCV000632654
RCV004025415
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000259.1:p.Arg346Lys
CA411146842
NM_000268.4:c.1037G>A