Canonical Allele Identifier: PA270436
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143589
ClinVar RCV Id: RCV000133127 RCV001385711
ClinVar Variation Id: 1027605
ClinVar RCV Id: RCV001328391 RCV001863184
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004983.1:p.Phe157Leu
CA270435
NM_004992.4:c.471C>G
CA415174547
NM_004992.4:c.471C>A
CA415174571
NM_004992.4:c.469T>C