ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829069183
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143756
ClinVar RCV Id:
RCV000133302
RCV001372487
RCV001753520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373067.1:p.Leu105Val
CA270593
NM_001386138.1:c.313C>G