Canonical Allele Identifier: PA2828327934
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 95190
ClinVar RCV Id: RCV000081197 RCV001520870 RCV002472322 RCV004019561
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356323.1:p.Ala346Ser
CA222801
NM_001369394.2:c.1036G>T