ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA170273
Gene: MECP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_004983.1:p.Pro75Leu
NM_004992.4:c.224C>T