ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826956014
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143309
ClinVar RCV Id:
RCV000132833
RCV000863677
RCV001571972
RCV004532588
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303266.1:p.Arg251Trp
CA270179
NM_001316337.2:c.751C>T