ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829565757
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2847232
ClinVar RCV Id:
RCV003640191
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Ala444del
CA2466570163
NM_004992.4:c.1330_1332del