ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828326666
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143466
ClinVar RCV Id:
RCV000132994
RCV002514764
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356321.1:p.Ala354Val
CA270277
NM_001369392.2:c.1061C>T