ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA252666
Gene: NF2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000003447
ClinVar Variation:
3286
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057502.2:p.Leu535Pro
CA021356
NM_016418.5:c.1604T>C