Canonical Allele Identifier: PA2828325554
Gene: MECP2 HGNC NCBI
ClinVar Allele:
380321
ClinVar RCV:
RCV000445564
ClinVar Variation:
393486
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356320.1:p.Glu272_Pro286del
CA16609349
NM_001369391.2:c.815_859del