Canonical Allele Identifier: PA170307
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143593
ClinVar RCV Id: RCV000133132 RCV001332544
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001104262.1:p.Thr172Ser
CA170305
NM_001110792.2:c.515C>G
CA415174438
NM_001110792.2:c.514A>T