ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA170311
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143606
ClinVar RCV Id:
RCV000133146
RCV002515930
RCV004527360
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Pro172Ser
CA170310
NM_004992.4:c.514C>T