Canonical Allele Identifier: PA2828327946
Gene: MECP2 HGNC NCBI
ClinVar RCV:
RCV001306521
ClinVar Variation:
1009081
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356323.1:p.Ala353Val
CA10558438
NM_001369394.2:c.1058C>T