ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829069123
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
36494
ClinVar RCV Id:
RCV000030166
RCV000133270
RCV002371791
RCV002274901
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373067.1:p.Val77Ile
CA170394
NM_001386138.1:c.229G>A