ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829068404
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143659
ClinVar RCV Id:
RCV000133200
RCV000460836
RCV001719908
RCV003990996
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373066.1:p.Ser6Leu
CA170358
NM_001386137.1:c.17C>T