Canonical Allele Identifier: PA2826955568
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143549
ClinVar RCV Id: RCV000133082
ClinVar Variation Id: 143550
ClinVar RCV Id: RCV000133083 RCV001383621
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001303266.1:p.Leu31Phe
CA270369
NM_001316337.2:c.93G>C
CA270371
NM_001316337.2:c.93G>T