ClinGen Allele Registry
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Canonical Allele Identifier:
PA170426
Gene: MECP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Lys343Arg
CA170424
NM_001110792.2:c.1028A>G