ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA170237
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143465
ClinVar RCV Id:
RCV000132993
RCV000678237
RCV001088957
RCV001800447
RCV004544311
RCV002381448
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Ala447Thr
CA170236
NM_004992.4:c.1339G>A