ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825559278
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2446116
ClinVar RCV Id:
RCV003156470
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Pro191Leu
CA415173812
NM_001110792.2:c.572C>T