ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829565138
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236302
ClinVar RCV Id:
RCV000225456
RCV001056633
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Pro217Leu
CA10581615
NM_004992.4:c.650C>T