ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828326934
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
548706
ClinVar RCV Id:
RCV000662350
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356322.1:p.Arg97His
CA415173401
NM_001369393.2:c.290G>A