ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916047761
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143564
ClinVar RCV Id:
RCV000133097
RCV000424796
RCV002354326
RCV003522932
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356323.1:p.Lys42Glu
CA270401
NM_001369394.2:c.124A>G