ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826955598
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2683175
ClinVar RCV Id:
RCV003482042
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303266.1:p.Lys42Thr
CA415175225
NM_001316337.2:c.125A>C