ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829069392
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000132944
RCV000622858
RCV001849957
RCV004527345
ClinVar Variation:
143418
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373067.1:p.Pro170Leu
CA232923
NM_001386138.1:c.509C>T