Canonical Allele Identifier: PA2828327781
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143749
ClinVar RCV Id: RCV000133293 RCV000170240 RCV000170241 RCV000169947 RCV000624661 RCV001049007 RCV000851523 RCV003984819
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356323.1:p.Arg216Trp
CA199325
NM_001369394.2:c.646C>T