ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916047750
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_001356323.1:p.Gln35Pro
CA270379
NM_001369394.2:c.104A>C