Canonical Allele Identifier: PA099295
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_004983.1:p.Leu124Phe
CA270369
NM_004992.4:c.372G>C
CA270371
NM_004992.4:c.372G>T