Canonical Allele Identifier: PA2829069992
Gene: MECP2 HGNC NCBI
ClinVar RCV:
RCV003640217
ClinVar Variation:
2848886
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001373068.1:p.Pro246Leu
CA415163451
NM_001386139.1:c.737C>T