ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA099120
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11814
ClinVar RCV Id:
RCV000012585
RCV000255874
RCV000552837
RCV001000318
RCV001195924
RCV002247329
RCV002311513
RCV003224092
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Arg106Trp
CA256089
NM_004992.4:c.316C>T