Canonical Allele Identifier: PA2829069998
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 431908
ClinVar RCV Id: RCV000497392 RCV001455468 RCV003448315
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001373068.1:p.Glu250Asp
CA10558429
NM_001386139.1:c.750G>C
CA415163273
NM_001386139.1:c.750G>T