ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645401244
Gene: MECP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000225456
RCV001056633
ClinVar Variation:
236302
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Pro229Leu
CA10581615
NM_001110792.2:c.686C>T