Canonical Allele Identifier: PA2828325830
Gene: MECP2 HGNC NCBI
ClinVar RCV:
RCV003640217
ClinVar Variation:
2848886
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356320.1:p.Pro376Leu
CA415163451
NM_001369391.2:c.1127C>T