ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829564965
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
857143
ClinVar RCV Id:
RCV001062759
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Gln128Lys
CA415175447
NM_004992.4:c.382C>A