ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829565033
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
498088
ClinVar RCV Id:
RCV000592531
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Gly163Trp
CA415174358
NM_004992.4:c.487G>T