ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829068394
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143653
ClinVar RCV Id:
RCV000133193
RCV000626873
RCV000476280
RCV001090502
RCV004532609
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373066.1:p.Pro2Arg
CA270500
NM_001386137.1:c.5C>G