ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA270594
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143756
ClinVar RCV Id:
RCV000133302
RCV001372487
RCV001753520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Leu328Val
CA270593
NM_004992.4:c.982C>G