ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829069131
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143733
ClinVar RCV Id:
RCV000133276
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373067.1:p.Pro79Thr
CA270562
NM_001386138.1:c.235C>A