ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828325944
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143563
ClinVar RCV Id:
RCV000133096
RCV000255743
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356321.1:p.Ser41Phe
CA270398
NM_001369392.2:c.122C>T