Canonical Allele Identifier: PA2828326654
Gene: MECP2 HGNC NCBI
ClinVar RCV:
RCV003640191
ClinVar Variation:
2847232
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356321.1:p.Ala351del
CA2466570163
NM_001369392.2:c.1051_1053del