ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA170321
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143611
ClinVar RCV Id:
RCV000133151
RCV000587767
RCV002515931
RCV003380475
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Pro188Arg
CA170319
NM_001110792.2:c.563C>G