Canonical Allele Identifier: PA916047784
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143589
ClinVar RCV Id: RCV000133127 RCV001385711
ClinVar Variation Id: 1027605
ClinVar RCV Id: RCV001328391 RCV001863184
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356323.1:p.Phe64Leu
CA270435
NM_001369394.2:c.192C>G
CA415174547
NM_001369394.2:c.192C>A
CA415174571
NM_001369394.2:c.190T>C