ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099183
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143309
ClinVar RCV Id:
RCV000132833
RCV000863677
RCV001571972
RCV004532588
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Arg344Trp
CA270179
NM_004992.4:c.1030C>T