ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA270592
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143754
ClinVar RCV Id:
RCV000133300
RCV000414666
RCV001849960
RCV003883134
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Pro334Leu
CA270591
NM_001110792.2:c.1001C>T