ClinGen Allele Registry
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Canonical Allele Identifier:
PA199484
Gene: MECP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000170251
RCV000588422
RCV000822137
RCV001582501
RCV003162262
ClinVar Variation:
36490
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Pro396Leu
CA199482
NM_001110792.2:c.1187C>T