ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099461
Gene: MECP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000133279
RCV001237156
RCV001571974
ClinVar Variation:
143736
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Pro302His
CA270570
NM_004992.4:c.905C>A