ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA270248
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143398
ClinVar RCV Id:
RCV000132924
RCV000693901
RCV001519066
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Pro400Leu
CA270246
NM_001110792.2:c.1199C>T