ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829068945
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2848886
ClinVar RCV Id:
RCV003640217
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373066.1:p.Pro246Leu
CA415163451
NM_001386137.1:c.737C>T