Canonical Allele Identifier: PA1139673403
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 928876
ClinVar RCV Id: RCV001193433
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001104262.1:p.Val221Leu
CA415172963
NM_001110792.2:c.661G>T
CA415172966
NM_001110792.2:c.661G>C