ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829069402
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
95187
ClinVar RCV Id:
RCV000081194
RCV000202529
RCV000224642
RCV001081987
RCV000716944
RCV002498425
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373067.1:p.Glu174Lys
CA211306
NM_001386138.1:c.520G>A