Canonical Allele Identifier: PA2828327773
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143746
ClinVar RCV Id: RCV000133290 RCV000256087 RCV001857484 RCV001778753
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356323.1:p.Arg213His
CA270588
NM_001369394.2:c.638G>A