Canonical Allele Identifier: PA2828328100
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143754
ClinVar RCV Id: RCV000133300 RCV000414666 RCV001849960 RCV003883134
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356323.1:p.Pro229Leu
CA270591
NM_001369394.2:c.686C>T