Canonical Allele Identifier: PA2828325709
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 138195
ClinVar RCV Id: RCV000169924 RCV000526298 RCV001088771 RCV002260613 RCV002316388 RCV002483250 RCV004544269
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356320.1:p.Pro309Leu
CA199300
NM_001369391.2:c.926C>T