Canonical Allele Identifier: PA2828325988
Gene: MECP2 HGNC NCBI
ClinVar RCV:
RCV000133120
ClinVar Variation:
143582
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356321.1:p.Asp63Ala
CA270428
NM_001369392.2:c.188A>C