ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825559250
Gene: MECP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1411171
ClinVar RCV:
RCV002010858
ClinVar Variation:
1501953
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Thr170Lys
CA415174497
NM_001110792.2:c.509C>A