ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828326819
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143567
ClinVar RCV Id:
RCV000133101
RCV001508975
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356322.1:p.Leu45Ser
CA270407
NM_001369393.2:c.134T>C