ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829565054
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1745655
ClinVar RCV Id:
RCV002338247
RCV003523130
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Pro172Ala
CA415173980
NM_004992.4:c.514C>G