ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA232971
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143581
ClinVar RCV Id:
RCV000133119
RCV000170275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Phe167Cys
CA232969
NM_001110792.2:c.500T>G