ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645401569
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
431897
ClinVar RCV Id:
RCV000498332
RCV002524071
RCV004535561
RCV003991029
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Pro393Ser
CA10558497
NM_001110792.2:c.1177C>T