ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826956221
Gene: MECP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303266.1:p.Ser308Asn
CA170203
NM_001316337.2:c.923G>A