ClinGen Allele Registry
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Canonical Allele Identifier:
PA121708
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000012604
RCV000132982
RCV001719695
RCV002260597
RCV002371770
RCV004540997
ClinVar Variation:
11831
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Gly428Ser
CA121707
NM_004992.4:c.1282G>A