ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA270278
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143466
ClinVar RCV Id:
RCV000132994
RCV002514764
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Ala447Val
CA270277
NM_004992.4:c.1340C>T