ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829068610
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000144771
RCV001800461
ClinVar Variation:
156628
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373066.1:p.Leu113Val
CA294661
NM_001386137.1:c.337C>G