Canonical Allele Identifier: PA2828326107
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 928876
ClinVar RCV Id: RCV001193433

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356321.1:p.Val116Leu
CA415172963
NM_001369392.2:c.346G>T
CA415172966
NM_001369392.2:c.346G>C