ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829565062
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406154
ClinVar RCV Id:
RCV000467894
RCV002244934
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Pro176Leu
CA16616643
NM_004992.4:c.527C>T