ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139745481
Gene: MECP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001257759
ClinVar Variation:
978959
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373068.1:p.Arg32Gly
CA415171766
NM_001386139.1:c.94C>G