Canonical Allele Identifier: PA2826955591
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 11809
ClinVar RCV Id: RCV000012578 RCV000030666 RCV000081202 RCV000170107 RCV000169934 RCV000445570 RCV000460141 RCV000624907 RCV001257757 RCV002273925 RCV003984804
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001303266.1:p.Arg40Cys
CA211250
NM_001316337.2:c.118C>T