ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828325132
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1501953
ClinVar RCV Id:
RCV002010858
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356320.1:p.Thr65Lys
CA415174497
NM_001369391.2:c.194C>A