ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA270493
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143645
ClinVar RCV Id:
RCV000133185
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.[Val212_Leu213del;Lys215_Lys219del]
CA270492
NM_004992.4:c.635_655del