ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA270279
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143466
ClinVar RCV Id:
RCV000132994
RCV002514764
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Ala459Val
CA270277
NM_001110792.2:c.1376C>T