ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829565630
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000445565
RCV000766764
RCV001267433
RCV001339351
ClinVar Variation:
393491
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Glu394_Pro405del
CA10558461
NM_004992.4:c.1180_1215del