ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828327994
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3066414
ClinVar RCV Id:
RCV003991418
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356323.1:p.Pro59Leu
CA415174704
NM_001369394.2:c.176C>T