Canonical Allele Identifier: PA2829565795
Gene: MECP2 HGNC NCBI
ClinVar RCV:
RCV003640217
ClinVar Variation:
2848886
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004983.1:p.Pro469Leu
CA415163451
NM_004992.4:c.1406C>T