Canonical Allele Identifier: PA2828326738
Gene: MECP2 HGNC NCBI
ClinVar RCV:
RCV000133056
ClinVar Variation:
143524
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356322.1:p.Pro8Ser
CA270328
NM_001369393.2:c.22C>T