ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099237
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143554
ClinVar RCV Id:
RCV000133087
RCV003522931
RCV002362775
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Gln128Pro
CA270379
NM_004992.4:c.383A>C