ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828325789
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003640191
ClinVar Variation:
2847232
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356320.1:p.Ala351del
CA2466570163
NM_001369391.2:c.1051_1053del