Canonical Allele Identifier: PA2828326821
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 11823
ClinVar RCV Id: RCV000012596 RCV000020628 RCV000224266 RCV000414791 RCV000544176 RCV001004016 RCV001374894 RCV001197458 RCV001257756 RCV001249626 RCV002326676 RCV002466399
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356322.1:p.Ala47Val
CA121703
NM_001369393.2:c.140C>T