ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828326847
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2029588
ClinVar RCV Id:
RCV002894195
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356322.1:p.Pro59Thr
CA415174714
NM_001369393.2:c.175C>A