ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA270391
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143560
ClinVar RCV Id:
RCV000133093
RCV001565841
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Arg133Leu
CA270390
NM_004992.4:c.398G>T