ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828326301
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143746
ClinVar RCV Id:
RCV000133290
RCV000256087
RCV001857484
RCV001778753
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356321.1:p.Arg213His
CA270588
NM_001369392.2:c.638G>A