Canonical Allele Identifier: PA172573
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143657
ClinVar RCV Id: RCV000146356 RCV000535349 RCV000715147 RCV001705937 RCV003990995 RCV004532610
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001104262.1:p.Thr240Ser
CA172571
NM_001110792.2:c.719C>G
CA415172595
NM_001110792.2:c.718A>T