ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573078741
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143733
ClinVar RCV Id:
RCV000133276
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373068.1:p.Pro79Thr
CA270562
NM_001386139.1:c.235C>A