Canonical Allele Identifier: PA2826955760
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 928876
ClinVar RCV Id: RCV001193433
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001303266.1:p.Val116Leu
CA415172963
NM_001316337.2:c.346G>T
CA415172966
NM_001316337.2:c.346G>C