ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825559192
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1324711
ClinVar RCV Id:
RCV001782431
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Pro113Thr
CA415176913
NM_001110792.2:c.337C>A