ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA256090
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11814
ClinVar RCV Id:
RCV000012585
RCV000255874
RCV000552837
RCV001000318
RCV001195924
RCV002247329
RCV002311513
RCV003224092
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Arg118Trp
CA256089
NM_001110792.2:c.352C>T