ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916047799
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143606
ClinVar RCV Id:
RCV000133146
RCV002515930
RCV004527360
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356323.1:p.Pro79Ser
CA170310
NM_001369394.2:c.235C>T