ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828325148
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143603
ClinVar RCV Id:
RCV000133142
RCV000193537
RCV000498300
RCV000688107
RCV002336285
RCV002252000
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356320.1:p.Arg74Trp
CA170308
NM_001369391.2:c.220C>T