Canonical Allele Identifier: PA2499237991
Gene: MECP2 HGNC NCBI
ClinVar RCV:
RCV001306521
ClinVar Variation:
1009081
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001104262.1:p.Ala458Val
CA10558438
NM_001110792.2:c.1373C>T