Canonical Allele Identifier: PA2828326826
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1308420
ClinVar RCV Id: RCV001763332

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356322.1:p.Phe49Leu
CA415175021
NM_001369393.2:c.147C>A
CA415175023
NM_001369393.2:c.147C>G
CA415175042
NM_001369393.2:c.145T>C