ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828325943
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143561
ClinVar RCV Id:
RCV000133094
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356321.1:p.Ser41Pro
CA270393
NM_001369392.2:c.121T>C