ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645401440
Gene: MECP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000438431
ClinVar Variation:
384750
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Ile315Val
CA16608767
NM_001110792.2:c.943A>G