Canonical Allele Identifier: PA2828325049
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143549
ClinVar RCV Id: RCV000133082
ClinVar Variation Id: 143550
ClinVar RCV Id: RCV000133083 RCV001383621
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356320.1:p.Leu31Phe
CA270369
NM_001369391.2:c.93G>C
CA270371
NM_001369391.2:c.93G>T