Canonical Allele Identifier: PA294718
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 156669
ClinVar RCV Id: RCV000726052 RCV000718449 RCV002265623 RCV002472364 RCV002514781 RCV004532634
ClinVar Variation Id: 2845786
ClinVar RCV Id: RCV003640178
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001104262.1:p.Gly243Arg
CA294716
NM_001110792.2:c.727G>A
CA415172511
NM_001110792.2:c.727G>C