Canonical Allele Identifier: PA2829068953
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2826707
ClinVar RCV Id: RCV003639914

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001373066.1:p.Val252Leu
CA415163239
NM_001386137.1:c.754G>T
CA415163240
NM_001386137.1:c.754G>C