ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA198823
Gene: MECP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001104262.1:p.Leu112Val
NM_001110792.2:c.334C>G