Canonical Allele Identifier: PA2828325856
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143483
ClinVar RCV Id: RCV000146354 RCV000863049 RCV002055852 RCV003380472
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356320.1:p.Arg391Thr
CA172565
NM_001369391.2:c.1172G>C