ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829069415
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143435
ClinVar RCV Id:
RCV000132961
RCV002055850
RCV003380461
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373067.1:p.Ser178Asn
CA170203
NM_001386138.1:c.533G>A