ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828327002
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_001356322.1:p.Ser136Leu
CA170358
NM_001369393.2:c.407C>T