ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA170312
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_001104262.1:p.Pro184Ser
CA170310
NM_001110792.2:c.550C>T