Canonical Allele Identifier: PA232946
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143480
ClinVar RCV Id: RCV000133011 RCV003638626 RCV004527356
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004983.1:p.Glu483Asp
CA232945
NM_004992.4:c.1449G>C
CA415162879
NM_004992.4:c.1449G>T