ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828327664
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
211464
ClinVar RCV Id:
RCV000194296
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356323.1:p.Ala141Asp
CA208382
NM_001369394.2:c.422C>A