Canonical Allele Identifier: PA2829068947
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 378124
ClinVar RCV Id: RCV000421418 RCV001810891
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001373066.1:p.Arg248Thr
CA16609147
NM_001386137.1:c.743G>C