ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA270536
Gene: MECP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Ala279Val
CA270535
NM_004992.4:c.836C>T