ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828326780
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143547
ClinVar RCV Id:
RCV000133080
RCV003483517
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356322.1:p.Val29Ala
CA170290
NM_001369393.2:c.86T>C