ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA170323
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143616
ClinVar RCV Id:
RCV000133156
RCV003990990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Ala181Val
CA170322
NM_004992.4:c.542C>T