ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828325002
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11835
ClinVar RCV Id:
RCV000012608
RCV000498874
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356320.1:p.Leu7Val
CA198822
NM_001369391.2:c.19C>G