ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829068553
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143742
ClinVar RCV Id:
RCV000133286
RCV001564211
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373066.1:p.Lys81Glu
CA270580
NM_001386137.1:c.241A>G