ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829068550
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_001373066.1:p.Ile80Val
CA16608767
NM_001386137.1:c.238A>G