Canonical Allele Identifier: PA274536
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143393
ClinVar RCV Id: RCV000169943 RCV000726321 RCV001078768 RCV001257761 RCV002515928 RCV004544307
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004983.1:p.Pro388Ser
CA274535
NM_004992.4:c.1162C>T