Canonical Allele Identifier: PA199321
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143344
ClinVar RCV Id: RCV000169942 RCV000225614 RCV001087462 RCV000724404 RCV002321616 RCV002505117 RCV004544306
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001104262.1:p.Val392Met
CA199319
NM_001110792.2:c.1174G>A