Canonical Allele Identifier: PA170336
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143627
ClinVar RCV Id: RCV000133167 RCV000533995 RCV000720795 RCV001529816 RCV000990999 RCV002498652 RCV004532605
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001104262.1:p.Thr208Ser
CA170334
NM_001110792.2:c.623C>G
CA415173227
NM_001110792.2:c.622A>T