ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828326806
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143558
ClinVar RCV Id:
RCV000133091
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356322.1:p.Arg40Gly
CA270387
NM_001369393.2:c.118C>G