Canonical Allele Identifier: PA2741830566
Gene: MECP2 HGNC NCBI
ClinVar RCV:
RCV003640217
ClinVar Variation:
2848886
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001104262.1:p.Pro481Leu
CA415163451
NM_001110792.2:c.1442C>T