ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741873917
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2673270
ClinVar RCV Id:
RCV003457630
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356323.1:p.Asp58Val
CA415174729
NM_001369394.2:c.173A>T