ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828326810
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143563
ClinVar RCV Id:
RCV000133096
RCV000255743
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356322.1:p.Ser41Phe
CA270398
NM_001369393.2:c.122C>T