ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828326547
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143418
ClinVar RCV Id:
RCV000132944
RCV000622858
RCV001849957
RCV004527345
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356321.1:p.Pro300Leu
CA232923
NM_001369392.2:c.899C>T