ClinGen Allele Registry
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Canonical Allele Identifier:
PA099096
Gene: MECP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000012596
RCV000020628
RCV000224266
RCV000414791
RCV000544176
RCV001004016
RCV001197458
RCV001249626
RCV001257756
RCV001374894
RCV002326676
RCV002466399
ClinVar Variation:
11823
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Ala140Val
CA121703
NM_004992.4:c.419C>T