Canonical Allele Identifier: PA170187
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143383
ClinVar RCV Id: RCV000132908 RCV000224689 RCV000608016 RCV001087050 RCV002371977 RCV001800445 RCV002498651 RCV004532592
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001104262.1:p.Pro399Leu
CA170185
NM_001110792.2:c.1196C>T