ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829069773
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143344
ClinVar RCV Id:
RCV000169942
RCV000225614
RCV001087462
RCV000724404
RCV002321616
RCV002505117
RCV004544306
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373068.1:p.Val157Met
CA199319
NM_001386139.1:c.469G>A