ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA270399
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_004983.1:p.Ser134Phe
CA270398
NM_004992.4:c.401C>T