Canonical Allele Identifier: PA2825559250
Gene: MECP2 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001104262.1:p.Thr170Lys
CA415174497
NM_001110792.2:c.509C>A