ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA170317
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143609
ClinVar RCV Id:
RCV000133149
RCV000192592
RCV000686598
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Pro173Arg
CA170316
NM_004992.4:c.518C>G