ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139742537
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
835471
ClinVar RCV Id:
RCV001036360
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356323.1:p.Leu15Phe
CA415176801
NM_001369394.2:c.43C>T