ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573078757
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000012597
RCV000081218
RCV000202468
RCV000224156
RCV000466020
RCV001841244
RCV002273927
RCV002287332
RCV002444428
RCV003224093
RCV004532325
ClinVar Variation:
11824
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373068.1:p.Arg83Cys
CA212529
NM_001386139.1:c.247C>T