ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828326462
Gene: MECP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356321.1:p.Ala285Val
CA170175
NM_001369392.2:c.854C>T