ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA170396
Gene: MECP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000030166
RCV000133270
RCV002274901
RCV002371791
ClinVar Variation:
36494
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Val312Ile
CA170394
NM_001110792.2:c.934G>A