Canonical Allele Identifier: PA2580245472
Gene: MECP2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001373068.1:p.Val77Leu
CA415169211
NM_001386139.1:c.229G>T
CA415169214
NM_001386139.1:c.229G>C