Canonical Allele Identifier: PA2828325132
Gene: MECP2 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356320.1:p.Thr65Lys
CA415174497
NM_001369391.2:c.194C>A