ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099423
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_004983.1:p.Pro225Arg
CA270500
NM_004992.4:c.674C>G