ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828325096
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1432259
ClinVar RCV Id:
RCV001981972
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356320.1:p.Glu50Lys
CA415175019
NM_001369391.2:c.148G>A