Canonical Allele Identifier: PA232924
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143418
ClinVar RCV Id: RCV000132944 RCV000622858 RCV001849957 RCV004527345
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004983.1:p.Pro393Leu
CA232923
NM_004992.4:c.1178C>T