ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA270382
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143555
ClinVar RCV Id:
RCV000133088
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Gly129Val
CA270381
NM_004992.4:c.386G>T