ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA245270
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197246
ClinVar RCV Id:
RCV000678233
RCV001472971
RCV002317047
RCV002472369
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Pro188His
CA245268
NM_001110792.2:c.563C>A