ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829565045
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2573814
ClinVar RCV Id:
RCV003318150
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Arg168Pro
CA415174112
NM_004992.4:c.503G>C