Canonical Allele Identifier: PA2573078759
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143747
ClinVar RCV Id: RCV000133291 RCV001420142
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001373068.1:p.Arg83Leu
CA233016
NM_001386139.1:c.248G>T