ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829069713
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
655951
ClinVar RCV Id:
RCV000812240
RCV001593003
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373068.1:p.Pro138Ser
CA415168076
NM_001386139.1:c.412C>T