Canonical Allele Identifier: PA2829069145
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 375525
ClinVar RCV Id: RCV000416950

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001373067.1:p.Lys82Asn
CA16044336
NM_001386138.1:c.246G>T
CA415169010
NM_001386138.1:c.246G>C