ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828327898
Gene: MECP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000132947
RCV000445563
RCV001512332
RCV004532594
ClinVar Variation:
143421
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356323.1:p.Glu301Lys
CA170197
NM_001369394.2:c.901G>A