ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829069013
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496282
ClinVar RCV Id:
RCV000589763
RCV001175142
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373067.1:p.Ala16Asp
CA415172315
NM_001386138.1:c.47C>A