Canonical Allele Identifier: PA270427
Gene: MECP2 HGNC NCBI
ClinVar RCV:
RCV000133117
ClinVar Variation:
143580
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001104262.1:p.Phe167Ile
CA270426
NM_001110792.2:c.499T>A