Canonical Allele Identifier: PA2829565157
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1439710
ClinVar RCV Id: RCV001936687 RCV002246606 RCV003134273 RCV003883726
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004983.1:p.Pro230Thr
CA415172537
NM_004992.4:c.688C>A