Canonical Allele Identifier: PA2828326721
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143483
ClinVar RCV Id: RCV000146354 RCV000863049 RCV002055852 RCV003380472
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356321.1:p.Arg391Thr
CA172565
NM_001369392.2:c.1172G>C