ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829565797
Gene: MECP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000421418
RCV001810891
ClinVar Variation:
378124
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Arg471Thr
CA16609147
NM_004992.4:c.1412G>C