Canonical Allele Identifier: PA2828325616
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 36490
ClinVar RCV Id: RCV000170251 RCV000822137 RCV000588422 RCV001582501 RCV003162262
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356320.1:p.Pro291Leu
CA199482
NM_001369391.2:c.872C>T