ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829069583
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496282
ClinVar RCV Id:
RCV000589763
RCV001175142
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373068.1:p.Ala16Asp
CA415172315
NM_001386139.1:c.47C>A