ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA270385
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143556
ClinVar RCV Id:
RCV000133089
RCV003231161
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Ala131Asp
CA270384
NM_004992.4:c.392C>A