ClinGen Allele Registry
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Canonical Allele Identifier:
PA294720
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
156670
ClinVar RCV Id:
RCV000723954
RCV001079662
RCV002362777
RCV002472365
RCV004544329
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Ala234Gly
CA294719
NM_004992.4:c.701C>G