ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828327740
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143716
ClinVar RCV Id:
RCV000133258
RCV000417939
RCV000794396
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356323.1:p.Ala194Pro
CA270538
NM_001369394.2:c.580G>C