Canonical Allele Identifier: PA916047800
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143607
ClinVar RCV Id: RCV000133147 RCV002055854 RCV002336286 RCV003990988 RCV004532603
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356323.1:p.Pro79Leu
CA170313
NM_001369394.2:c.236C>T